{"id":"https://openalex.org/W7123399997","doi":"https://doi.org/10.1002/ajmga.70048","title":"Novel RNF113A Variant Underlying X\u2010Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother","display_name":"Novel RNF113A Variant Underlying X\u2010Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother","publication_year":2026,"publication_date":"2026-01-14","ids":{"openalex":"https://openalex.org/W7123399997","doi":"https://doi.org/10.1002/ajmga.70048","pmid":"https://pubmed.ncbi.nlm.nih.gov/41531333"},"language":"en","primary_location":{"id":"doi:10.1002/ajmga.70048","doi":"https://doi.org/10.1002/ajmga.70048","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmga.70048","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5057671051","display_name":"Rachel Rabin","orcid":"https://orcid.org/0000-0003-4906-7428","observed_orcids":["https://orcid.org/0000-0003-4906-7428"]},"institutions":[{"id":"https://openalex.org/I57206974","display_name":"New York University","ror":"https://ror.org/0190ak572","country_code":"US","type":"education","lineage":["https://openalex.org/I57206974"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Rachel Rabin","raw_affiliation_strings":["Clinical Genetic Services, Department of Pediatrics NYU Grossman School of Medicine  New York New York USA"],"raw_orcid":"https://orcid.org/0000-0003-4906-7428","affiliations":[{"raw_affiliation_string":"Clinical Genetic Services, Department of Pediatrics NYU Grossman School of Medicine  New York New York USA","institution_ids":["https://openalex.org/I57206974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069908905","display_name":"Kevin T. A. Booth","orcid":"https://orcid.org/0000-0003-3061-3652","observed_orcids":["https://orcid.org/0000-0003-3061-3652"]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":null,"type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kevin T. A. Booth","raw_affiliation_strings":["Department of Medical and Molecular Genetics Indiana University School of Medicine  Indianapolis Indiana USA","Department of Otolaryngology\u2014Head and Neck Surgery Indiana University School of Medicine  Indianapolis Indiana USA"],"raw_orcid":"https://orcid.org/0000-0003-3061-3652","affiliations":[{"raw_affiliation_string":"Department of Medical and Molecular Genetics Indiana University School of Medicine  Indianapolis Indiana USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Department of Otolaryngology\u2014Head and Neck Surgery Indiana University School of Medicine  Indianapolis Indiana USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084954424","display_name":"Shawn E. Cowper","orcid":"https://orcid.org/0000-0002-5850-4389","observed_orcids":["https://orcid.org/0000-0002-5850-4389"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shawn E. Cowper","raw_affiliation_strings":["Department of Dermatology and Pathology Yale University  New Haven Connecticut USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology and Pathology Yale University  New Haven Connecticut USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078194505","display_name":"Keith A. Choate","orcid":"https://orcid.org/0000-0003-1010-6354","observed_orcids":["https://orcid.org/0000-0003-1010-6354","https://orcid.org/0000-0002-5857-7772"]},"institutions":[{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Keith Choate","raw_affiliation_strings":["Department of Dermatology, Genetics, and Pathology Yale University School of Medicine  New Haven Connecticut USA"],"raw_orcid":"https://orcid.org/0000-0003-1010-6354","affiliations":[{"raw_affiliation_string":"Department of Dermatology, Genetics, and Pathology Yale University School of Medicine  New Haven Connecticut USA","institution_ids":["https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090634823","display_name":"Berish Y. Rubin","orcid":"https://orcid.org/0000-0001-8254-5634","observed_orcids":["https://orcid.org/0000-0001-8254-5634"]},"institutions":[{"id":"https://openalex.org/I164389053","display_name":"Fordham University","ror":"https://ror.org/03qnxaf80","country_code":"US","type":"education","lineage":["https://openalex.org/I164389053"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Berish Y. Rubin","raw_affiliation_strings":["Department of Biological Sciences Fordham University  Bronx New York USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Sciences Fordham University  Bronx New York USA","institution_ids":["https://openalex.org/I164389053"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053843937","display_name":"Joseph Ekstein","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Joseph Ekstein","raw_affiliation_strings":["Dor Yeshorim, Committee for Prevention Jewish Genetic Diseases  Brooklyn New York USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dor Yeshorim, Committee for Prevention Jewish Genetic Diseases  Brooklyn New York USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5121461079","display_name":"John Pappas","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I57206974","display_name":"New York University","ror":"https://ror.org/0190ak572","country_code":"US","type":"education","lineage":["https://openalex.org/I57206974"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John Pappas","raw_affiliation_strings":["Clinical Genetic Services, Department of Pediatrics NYU Grossman School of Medicine  New York New York USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetic Services, Department of Pediatrics NYU Grossman School of Medicine  New York New York USA","institution_ids":["https://openalex.org/I57206974"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5022931939","display_name":"Yoel Hirsch","orcid":"https://orcid.org/0000-0002-1218-1385","observed_orcids":["https://orcid.org/0000-0002-1218-1385"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yoel Hirsch","raw_affiliation_strings":["Dor Yeshorim, Committee for Prevention Jewish Genetic Diseases  Brooklyn New York USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dor Yeshorim, Committee for Prevention Jewish Genetic Diseases  Brooklyn New York USA","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5057671051"],"corresponding_institution_ids":["https://openalex.org/I57206974"],"apc_list":{"value":4710,"currency":"USD","value_usd":4710},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.01895382,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"200","issue":"5","first_page":"1121","last_page":"1127"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11167","display_name":"Hair Growth and Disorders","score":0.5708000063896179,"subfield":{"id":"https://openalex.org/subfields/2748","display_name":"Urology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11167","display_name":"Hair Growth and Disorders","score":0.5708000063896179,"subfield":{"id":"https://openalex.org/subfields/2748","display_name":"Urology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.2687999904155731,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.10100000351667404,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/novel-variants","display_name":"novel variants","score":0.5849999785423279},{"id":"https://openalex.org/keywords/somatic-mosaicism","display_name":"somatic mosaicism","score":0.8569999933242798},{"id":"https://openalex.org/keywords/germline-mosaicism","display_name":"germline mosaicism","score":0.9940000176429749},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.7160000205039978},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.777999997138977},{"id":"https://openalex.org/keywords/microcephaly","display_name":"microcephaly","score":0.9919999837875366},{"id":"https://openalex.org/keywords/myopia","display_name":"myopia","score":0.6520000100135803},{"id":"https://openalex.org/keywords/protein-structure-modeling","display_name":"protein structure modeling","score":0.5830000042915344},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.7009999752044678},{"id":"https://openalex.org/keywords/risk-of-recurrence","display_name":"recurrence risk","score":0.7519999742507935}],"concepts":[{"id":"https://openalex.org/C48720390","wikidata":"https://www.wikidata.org/wiki/Q5552250","display_name":"Germline mosaicism","level":4,"score":0.7106000185012817},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6780999898910522},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6151999831199646},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.5620999932289124},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.5590000152587891},{"id":"https://openalex.org/C183021626","wikidata":"https://www.wikidata.org/wiki/Q4620674","display_name":"Sex organ","level":2,"score":0.4327999949455261},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.4138000011444092},{"id":"https://openalex.org/C2781037291","wikidata":"https://www.wikidata.org/wiki/Q5282521","display_name":"Disorders of sex development","level":2,"score":0.3995000123977661},{"id":"https://openalex.org/C2778908642","wikidata":"https://www.wikidata.org/wiki/Q200779","display_name":"Genetic disorder","level":3,"score":0.3582000136375427},{"id":"https://openalex.org/C2992981700","wikidata":"https://www.wikidata.org/wiki/Q727096","display_name":"Congenital disease","level":2,"score":0.34049999713897705},{"id":"https://openalex.org/C134305767","wikidata":"https://www.wikidata.org/wiki/Q725508","display_name":"Somatic cell","level":3,"score":0.33980000019073486},{"id":"https://openalex.org/C2778946701","wikidata":"https://www.wikidata.org/wiki/Q2989168","display_name":"Hair disease","level":2,"score":0.3343000113964081},{"id":"https://openalex.org/C2779805795","wikidata":"https://www.wikidata.org/wiki/Q1645189","display_name":"Cabello","level":3,"score":0.33160001039505005},{"id":"https://openalex.org/C2779179668","wikidata":"https://www.wikidata.org/wiki/Q7193408","display_name":"Pigmentation disorder","level":2,"score":0.3215000033378601},{"id":"https://openalex.org/C69218264","wikidata":"https://www.wikidata.org/wiki/Q579704","display_name":"Non-Mendelian inheritance","level":4,"score":0.30720001459121704},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.3019999861717224},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.29600000381469727},{"id":"https://openalex.org/C75069973","wikidata":"https://www.wikidata.org/wiki/Q913584","display_name":"Genetic genealogy","level":3,"score":0.2822999954223633},{"id":"https://openalex.org/C551499885","wikidata":"https://www.wikidata.org/wiki/Q183560","display_name":"Intellectual disability","level":2,"score":0.2743000090122223},{"id":"https://openalex.org/C2779672484","wikidata":"https://www.wikidata.org/wiki/Q529622","display_name":"Aneuploidy","level":4,"score":0.2728999853134155},{"id":"https://openalex.org/C46699223","wikidata":"https://www.wikidata.org/wiki/Q11078","display_name":"Endocrine system","level":3,"score":0.27090001106262207},{"id":"https://openalex.org/C2778594975","wikidata":"https://www.wikidata.org/wiki/Q3087172","display_name":"Developmental disorder","level":3,"score":0.2639000117778778},{"id":"https://openalex.org/C35158069","wikidata":"https://www.wikidata.org/wiki/Q61333","display_name":"X chromosome","level":3,"score":0.2572999894618988},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.25270000100135803}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D008831","descriptor_name":"Microcephaly","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008831","descriptor_name":"Microcephaly","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008831","descriptor_name":"Microcephaly","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009030","descriptor_name":"Mosaicism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009030","descriptor_name":"Mosaicism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009030","descriptor_name":"Mosaicism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009030","descriptor_name":"Mosaicism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009030","descriptor_name":"Mosaicism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009030","descriptor_name":"Mosaicism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009030","descriptor_name":"Mosaicism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009030","descriptor_name":"Mosaicism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009030","descriptor_name":"Mosaicism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009035","descriptor_name":"Mothers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009035","descriptor_name":"Mothers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009035","descriptor_name":"Mothers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009035","descriptor_name":"Mothers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009035","descriptor_name":"Mothers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009035","descriptor_name":"Mothers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009035","descriptor_name":"Mothers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009035","descriptor_name":"Mothers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009035","descriptor_name":"Mothers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D040181","descriptor_name":"Genetic Diseases, X-Linked","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D054463","descriptor_name":"Trichothiodystrophy Syndromes","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmga.70048","doi":"https://doi.org/10.1002/ajmga.70048","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmga.70048","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},{"id":"pmid:41531333","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41531333","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American journal of medical genetics. Part A","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9476000070571899}],"sustainable_development_goals_aurora":[],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":11,"referenced_works":["https://openalex.org/W2003416904","https://openalex.org/W2051978340","https://openalex.org/W2113599324","https://openalex.org/W2944960785","https://openalex.org/W2966705178","https://openalex.org/W2992334630","https://openalex.org/W2997476115","https://openalex.org/W3000649698","https://openalex.org/W4223484640","https://openalex.org/W4390616142","https://openalex.org/W4412712646"],"related_works":[],"abstract_inverted_index":{"Trichothiodystrophies":[0],"(TTDs)":[1],"are":[2,29,120,161],"a":[3,20,47,91],"group":[4],"of":[5,27,148,165,172,199,215],"disorders":[6],"that":[7,18,159,170],"have":[8,76,127,184],"been":[9,44,77],"characterized":[10,50],"by":[11,51],"sparse,":[12],"brittle,":[13],"and":[14,57,65,126,143,155,206,212],"sulfur":[15],"deficient":[16],"hair":[17],"showed":[19,158],"\"tiger-tail\"":[21],"banding":[22,145],"pattern.":[23,146],"Though":[24],"the":[25,98,106,121,173,176,181,193,197],"majority":[26],"TTDs":[28],"inherited":[30],"in":[31,87,97,105,109,175],"an":[32],"autosomal":[33],"recessive":[34],"pattern,":[35],"RNF113A":[36,99,166],"related":[37,167],"trichothiodystrophy":[38,132],"is":[39,102],"X-linked.":[40],"RNF113A-related":[41,80],"TTD":[42],"has":[43],"associated":[45],"with":[46,79,90,130,218],"non-photosensitive":[48],"trichothiodystrophy,":[49],"intellectual":[52,134],"disability,":[53,135],"microcephaly,":[54,136],"growth":[55,137],"restriction":[56],"failure,":[58,138],"genital":[59,153],"abnormalities,":[60,62,150,154],"endocrine":[61],"recurrent":[63,151],"infections,":[64,152],"abnormal":[66,156],"brain":[67],"magnetic":[68],"resonance":[69],"imaging":[70],"(MRI).":[71],"To":[72],"date,":[73],"six":[74],"individuals":[75,125,217],"described":[78],"TTD.":[81],"Here":[82],"we":[83,179],"describe":[84],"two":[85],"brothers":[86,119],"their":[88,110],"30's":[89],"novel":[92],"hemizygous":[93],"variant":[94,174],"c.635G>A":[95],"p.Gly212Asp":[96],"gene,":[100],"which":[101],"not":[103,162],"present":[104],"tissues":[107],"tested":[108],"mother.":[111],"Protein":[112],"modeling":[113],"suggests":[114],"significant":[115],"structural":[116],"alteration.":[117],"The":[118],"oldest":[122],"known":[123],"affected":[124,216],"features":[128],"consistent":[129],"X-linked":[131],"including":[133],"dysmorphic":[139],"features,":[140],"severe":[141],"myopia":[142],"tiger-tail":[144],"Absence":[147],"endocrinological":[149],"MRI":[157],"these":[160],"universal":[163],"findings":[164],"trichothiodystrophy.":[168],"Given":[169],"absence":[171],"patients'":[177],"mother,":[178],"presume":[180],"mother":[182],"to":[183],"low":[185],"level":[186],"somatic":[187],"mosaicism":[188,191],"or":[189],"germline":[190],"for":[192,202,210],"variant.":[194],"This":[195],"highlights":[196],"importance":[198],"genetic":[200],"counseling":[201],"accurate":[203],"recurrence":[204],"risks":[205],"warranted":[207],"reproductive":[208],"testing":[209],"parents":[211],"female":[213],"siblings":[214],"presumed":[219],"de":[220],"novo":[221],"variants.":[222]},"counts_by_year":[],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2026-01-14T00:00:00"}