{"id":"https://openalex.org/W7223188256","doi":"https://doi.org/10.1002/mgg3.70320","title":"Novel Compound Heterozygous RECQL4 Pathogenic Variants and Associated Phenotypes in a Chinese Patient With Rothmund\u2010Thomson Syndrome: Case Report and Literature Review","display_name":"Novel Compound Heterozygous RECQL4 Pathogenic Variants and Associated Phenotypes in a Chinese Patient With Rothmund\u2010Thomson Syndrome: Case Report and Literature Review","publication_year":2026,"publication_date":"2026-10-01","ids":{"openalex":"https://openalex.org/W7223188256","doi":"https://doi.org/10.1002/mgg3.70320","pmid":"https://pubmed.ncbi.nlm.nih.gov/42910491","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13688424"},"language":"en","primary_location":{"id":"doi:10.1002/mgg3.70320","doi":"https://doi.org/10.1002/mgg3.70320","is_oa":true,"landing_page_url":"https://doi.org/10.1002/mgg3.70320","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.70320","source":{"id":"https://openalex.org/S2764373787","display_name":"Molecular Genetics & Genomic Medicine","issn_l":"2324-9269","issn":["2324-9269"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","jufo-1","ki-jl-1","medline","norway-1","poland-70","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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics & Genomic Medicine","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.70320","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100423137","display_name":"Yuanyuan Wang","orcid":"https://orcid.org/0000-0002-0467-6070","observed_orcids":["https://orcid.org/0000-0002-0467-6070"]},"institutions":[{"id":"https://openalex.org/I116953780","display_name":"Tongji University","ror":"https://ror.org/03rc6as71","country_code":"CN","type":"education","lineage":["https://openalex.org/I116953780"]},{"id":"https://openalex.org/I4210156460","display_name":"Shanghai Skin Disease Hospital","ror":"https://ror.org/05v6r7450","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210156460"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yuanyuan Wang","raw_affiliation_strings":["Department of Medical Mycology, Center of Infectious Skin Diseases Shanghai Skin Disease Hospital, Tongji University School of Medicine  Shanghai People's Republic of China"],"raw_orcid":"https://orcid.org/0000-0002-0467-6070","affiliations":[{"raw_affiliation_string":"Department of Medical Mycology, Center of Infectious Skin Diseases Shanghai Skin Disease Hospital, Tongji University School of Medicine  Shanghai People's Republic of China","institution_ids":["https://openalex.org/I116953780","https://openalex.org/I4210156460"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5122834531","display_name":"Lulu Li","orcid":"https://orcid.org/0000-0001-7278-0024","observed_orcids":["https://orcid.org/0000-0001-7278-0024"]},"institutions":[{"id":"https://openalex.org/I116953780","display_name":"Tongji University","ror":"https://ror.org/03rc6as71","country_code":"CN","type":"education","lineage":["https://openalex.org/I116953780"]},{"id":"https://openalex.org/I4210156460","display_name":"Shanghai Skin Disease Hospital","ror":"https://ror.org/05v6r7450","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210156460"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Lulu Li","raw_affiliation_strings":["Department of Medical Mycology, Center of Infectious Skin Diseases Shanghai Skin Disease Hospital, Tongji University School of Medicine  Shanghai People's Republic of China"],"raw_orcid":"https://orcid.org/0000-0001-7278-0024","affiliations":[{"raw_affiliation_string":"Department of Medical Mycology, Center of Infectious Skin Diseases Shanghai Skin Disease Hospital, Tongji University School of Medicine  Shanghai People's Republic of China","institution_ids":["https://openalex.org/I116953780","https://openalex.org/I4210156460"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051574783","display_name":"Chunjiao Zheng","orcid":"https://orcid.org/0009-0007-0258-6008","observed_orcids":["https://orcid.org/0009-0007-0258-6008"]},"institutions":[{"id":"https://openalex.org/I116953780","display_name":"Tongji University","ror":"https://ror.org/03rc6as71","country_code":"CN","type":"education","lineage":["https://openalex.org/I116953780"]},{"id":"https://openalex.org/I4210156460","display_name":"Shanghai Skin Disease Hospital","ror":"https://ror.org/05v6r7450","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210156460"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Chunjiao Zheng","raw_affiliation_strings":["Department of Medical Mycology, Center of Infectious Skin Diseases Shanghai Skin Disease Hospital, Tongji University School of Medicine  Shanghai People's Republic of China"],"raw_orcid":"https://orcid.org/0009-0007-0258-6008","affiliations":[{"raw_affiliation_string":"Department of Medical Mycology, Center of Infectious Skin Diseases Shanghai Skin Disease Hospital, Tongji University School of Medicine  Shanghai People's Republic of China","institution_ids":["https://openalex.org/I116953780","https://openalex.org/I4210156460"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5159250668","display_name":"Min Li","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I116953780","display_name":"Tongji University","ror":"https://ror.org/03rc6as71","country_code":"CN","type":"education","lineage":["https://openalex.org/I116953780"]},{"id":"https://openalex.org/I4210156460","display_name":"Shanghai Skin Disease Hospital","ror":"https://ror.org/05v6r7450","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210156460"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Min Li","raw_affiliation_strings":["Department of Medical Mycology, Center of Infectious Skin Diseases Shanghai Skin Disease Hospital, Tongji University School of Medicine  Shanghai People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Mycology, Center of Infectious Skin Diseases Shanghai Skin Disease Hospital, Tongji University School of Medicine  Shanghai People's Republic of China","institution_ids":["https://openalex.org/I116953780","https://openalex.org/I4210156460"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5114417902","display_name":"Qian Yu","orcid":"https://orcid.org/0000-0002-4862-3640","observed_orcids":["https://orcid.org/0000-0002-4862-3640"]},"institutions":[{"id":"https://openalex.org/I116953780","display_name":"Tongji University","ror":"https://ror.org/03rc6as71","country_code":"CN","type":"education","lineage":["https://openalex.org/I116953780"]},{"id":"https://openalex.org/I4210156460","display_name":"Shanghai Skin Disease Hospital","ror":"https://ror.org/05v6r7450","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210156460"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Qian Yu","raw_affiliation_strings":["Department of Medical Mycology, Center of Infectious Skin Diseases Shanghai Skin Disease Hospital, Tongji University School of Medicine  Shanghai People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Mycology, Center of Infectious Skin Diseases Shanghai Skin Disease Hospital, Tongji University School of Medicine  Shanghai People's Republic of China","institution_ids":["https://openalex.org/I116953780","https://openalex.org/I4210156460"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5114417902","https://openalex.org/A5159250668"],"corresponding_institution_ids":["https://openalex.org/I116953780","https://openalex.org/I4210156460"],"apc_list":{"value":2900,"currency":"USD","value_usd":2900},"apc_paid":{"value":2900,"currency":"USD","value_usd":2900},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.83807371,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"14","issue":"10","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.9345999956130981,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"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/T12355","display_name":"Genetic and rare skin diseases.","score":0.9345999956130981,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"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":0.058400001376867294,"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/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.0017999999690800905,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/rothmund-thomson-syndrome","display_name":"Rothmund-Thomson syndrome","score":0.972000002861023},{"id":"https://openalex.org/keywords/recql4","display_name":"RECQL4","score":0.9810000061988831},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.9829999804496765},{"id":"https://openalex.org/keywords/novel-frameshift-variant","display_name":"novel frameshift variant","score":0.871999979019165},{"id":"https://openalex.org/keywords/gynecomastia","display_name":"gynecomastia","score":0.847000002861023},{"id":"https://openalex.org/keywords/hypogonadism","display_name":"hypogonadism","score":0.8339999914169312},{"id":"https://openalex.org/keywords/poikiloderma","display_name":"poikiloderma","score":0.9810000061988831},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.656000018119812},{"id":"https://openalex.org/keywords/mutation-spectrum","display_name":"mutation spectrum","score":0.8339999914169312},{"id":"https://openalex.org/keywords/chinese-patients","display_name":"Chinese patients","score":0.49000000953674316}],"concepts":[{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.6718000173568726},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6680999994277954},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6256999969482422},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.6011999845504761},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.5425999760627747},{"id":"https://openalex.org/C62923972","wikidata":"https://www.wikidata.org/wiki/Q600499","display_name":"Nonsense","level":3,"score":0.515500009059906},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5008999705314636},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.49559998512268066},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.43389999866485596},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.38179999589920044},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.37369999289512634},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3702999949455261},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.3659999966621399},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.3555000126361847},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.3352000117301941},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.32190001010894775},{"id":"https://openalex.org/C200844832","wikidata":"https://www.wikidata.org/wiki/Q5533517","display_name":"Genotype-phenotype distinction","level":4,"score":0.31139999628067017},{"id":"https://openalex.org/C2778156654","wikidata":"https://www.wikidata.org/wiki/Q666075","display_name":"Genodermatosis","level":3,"score":0.30559998750686646},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.2854999899864197},{"id":"https://openalex.org/C12387725","wikidata":"https://www.wikidata.org/wiki/Q937024","display_name":"Phenocopy","level":4,"score":0.2849000096321106},{"id":"https://openalex.org/C2993153387","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic diagnosis","level":3,"score":0.28119999170303345},{"id":"https://openalex.org/C63971535","wikidata":"https://www.wikidata.org/wiki/Q6666068","display_name":"Locus heterogeneity","level":5,"score":0.26190000772476196},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.25850000977516174},{"id":"https://openalex.org/C3020646490","wikidata":"https://www.wikidata.org/wiki/Q25203551","display_name":"Clinical phenotype","level":4,"score":0.25589999556541443}],"mesh":[{"descriptor_ui":"D000095225","descriptor_name":"East Asian People","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D000095225","descriptor_name":"East Asian People","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","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":"D008297","descriptor_name":"Male","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":true},{"descriptor_ui":"D011038","descriptor_name":"Rothmund-Thomson Syndrome","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":true},{"descriptor_ui":"D011038","descriptor_name":"Rothmund-Thomson Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011038","descriptor_name":"Rothmund-Thomson Syndrome","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D018389","descriptor_name":"Codon, Nonsense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053484","descriptor_name":"RecQ Helicases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1002/mgg3.70320","doi":"https://doi.org/10.1002/mgg3.70320","is_oa":true,"landing_page_url":"https://doi.org/10.1002/mgg3.70320","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.70320","source":{"id":"https://openalex.org/S2764373787","display_name":"Molecular Genetics & Genomic Medicine","issn_l":"2324-9269","issn":["2324-9269"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","jufo-1","ki-jl-1","medline","norway-1","poland-70","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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics & Genomic Medicine","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13688424","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13688424/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13688424/pdf/MGG3-14-e70320.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Mol Genet Genomic Med","raw_type":"Text"},{"id":"pmid:42910491","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42910491","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":"Molecular genetics & genomic medicine","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1002/mgg3.70320","doi":"https://doi.org/10.1002/mgg3.70320","is_oa":true,"landing_page_url":"https://doi.org/10.1002/mgg3.70320","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mgg3.70320","source":{"id":"https://openalex.org/S2764373787","display_name":"Molecular Genetics & Genomic Medicine","issn_l":"2324-9269","issn":["2324-9269"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","jufo-1","ki-jl-1","medline","norway-1","poland-70","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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics & Genomic Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9789000153541565,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7223188256.pdf","grobid_xml":"https://content.openalex.org/works/W7223188256.grobid-xml"},"referenced_works_count":18,"referenced_works":["https://openalex.org/W139336620","https://openalex.org/W1452449542","https://openalex.org/W1935801587","https://openalex.org/W1967436631","https://openalex.org/W1973880372","https://openalex.org/W2055383396","https://openalex.org/W2059830809","https://openalex.org/W2097763610","https://openalex.org/W2098467853","https://openalex.org/W2129223193","https://openalex.org/W2131117544","https://openalex.org/W2143090029","https://openalex.org/W2164808256","https://openalex.org/W2291212089","https://openalex.org/W2548136543","https://openalex.org/W2809365693","https://openalex.org/W4254776846","https://openalex.org/W4388638835"],"related_works":["https://openalex.org/W2938536951","https://openalex.org/W2789682871","https://openalex.org/W3174761565","https://openalex.org/W7127341047","https://openalex.org/W4200079393","https://openalex.org/W2809365693","https://openalex.org/W3031267548","https://openalex.org/W4366813098","https://openalex.org/W4245105944","https://openalex.org/W1988540885"],"abstract_inverted_index":{"BACKGROUND:":[0],"Rothmund-Thomson":[1],"syndrome":[2],"(RTS)":[3],"is":[4],"a":[5,63,67,75,158,165,217],"rare":[6],"autosomal":[7],"recessive":[8],"disorder":[9],"characterized":[10],"by":[11],"poikiloderma,":[12,136],"sparse":[13],"hair,":[14],"short":[15,137],"stature,":[16,138],"skeletal":[17],"abnormalities,":[18],"and":[19,73,86,100,106,126,139,164,184,228],"an":[20,140],"increased":[21],"predisposition":[22],"to":[23,111,122],"malignancies.":[24],"Pathogenic":[25],"variants":[26,155],"in":[27,62,156],"the":[28,32,42,79,82,113,124,176,186,196,201,208,221,231],"RECQL4":[29,59,83,190],"gene":[30],"represent":[31],"most":[33],"common":[34],"genetic":[35,127],"cause":[36],"of":[37,78,143,179,189,195,205,210,223,234],"RTS":[38],"type":[39],"2.":[40],"However,":[41],"full":[43],"phenotypic":[44],"spectrum,":[45],"particularly":[46],"regarding":[47,81],"endocrine":[48,70,214],"manifestations,":[49],"remains":[50],"incompletely":[51],"understood.":[52],"OBJECTIVE:":[53],"To":[54],"report":[55],"novel":[56,166,197],"compound":[57,153],"heterozygous":[58,154],"pathogenic":[60],"variant":[61,161,168,199],"Chinese":[64],"patient,":[65],"describe":[66],"previously":[68],"unreported":[69,141],"phenotype":[71,215],"(gynecomastia),":[72],"provide":[74],"comprehensive":[76,91,232],"review":[77,118,173,219],"literature":[80,117,172,218],"mutational":[84,203],"spectrum":[85],"differential":[87,177],"diagnosis.":[88],"METHODS:":[89],"A":[90,116,130],"clinical":[92,125],"evaluation,":[93],"including":[94],"detailed":[95],"physical":[96],"examination,":[97],"dermatoscopic":[98],"assessment,":[99],"histopathological":[101],"analysis,":[102],"was":[103,119],"performed.":[104],"Whole-exome":[105],"Sanger":[107],"sequencing":[108],"were":[109],"conducted":[110],"identify":[112],"causative":[114],"variants.":[115],"additionally":[120],"performed":[121],"contextualize":[123],"findings.":[128],"RESULTS:":[129],"14-year-old":[131],"boy":[132],"presented":[133],"with":[134,146,216],"classical":[135],"feature":[142],"gynecomastia":[144],"associated":[145],"low":[147],"testosterone":[148],"levels.":[149],"Genetic":[150],"testing":[151],"identified":[152],"RECQL4:":[157],"known":[159,202],"nonsense":[160],"c.2290C>T":[162],"(p.Glu764*)":[163],"frameshift":[167],"c.2053del":[169,198],"(p.Asp685Thrfs*5).":[170],"Our":[171],"further":[174],"delineated":[175],"diagnosis":[178],"poikiloderma":[180],"among":[181],"related":[182],"genodermatoses":[183],"highlighted":[185],"systemic":[187],"impact":[188],"dysfunction.":[191],"CONCLUSION:":[192],"The":[193],"identification":[194],"broadens":[200],"landscape":[204],"RECQL4.":[206],"Furthermore,":[207],"integration":[209],"our":[211],"newly":[212],"observed":[213],"underscores":[220],"necessity":[222],"multidisciplinary":[224],"evaluation-including":[225],"endocrinological,":[226],"orthopedic,":[227],"audiological":[229],"assessments-in":[230],"management":[233],"RTS.":[235]},"counts_by_year":[],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2026-10-22T00:00:00"}