{"id":"https://openalex.org/W7204196276","doi":"https://doi.org/10.1016/j.tjog.2026.04.018","title":"Successful preimplantation genetic testing for a de novo TP63 mutation using direct detection and embryo-based STR haplotyping in EEC syndrome","display_name":"Successful preimplantation genetic testing for a de novo TP63 mutation using direct detection and embryo-based STR haplotyping in EEC syndrome","publication_year":2026,"publication_date":"2026-08-25","ids":{"openalex":"https://openalex.org/W7204196276","doi":"https://doi.org/10.1016/j.tjog.2026.04.018","pmid":"https://pubmed.ncbi.nlm.nih.gov/42642160"},"language":"en","primary_location":{"id":"doi:10.1016/j.tjog.2026.04.018","doi":"https://doi.org/10.1016/j.tjog.2026.04.018","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.tjog.2026.04.018","pdf_url":"https://www.sciencedirect.com/science/article/pii/S1028455926002263/pdf","source":{"id":"https://openalex.org/S180931821","display_name":"Taiwanese Journal of Obstetrics and Gynecology","issn_l":"1028-4559","issn":["1028-4559","1875-6263"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","doyens","jufo-1","ki-jl-1","medline"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"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":"Taiwanese Journal of Obstetrics and Gynecology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://www.sciencedirect.com/science/article/pii/S1028455926002263/pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5091181482","display_name":"Yung-Chen Chien","orcid":"https://orcid.org/0009-0006-1567-8553","observed_orcids":["https://orcid.org/0009-0006-1567-8553"]},"institutions":[{"id":"https://openalex.org/I2802331550","display_name":"Taipei Medical University Hospital","ror":"https://ror.org/03k0md330","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I2802331550"]},{"id":"https://openalex.org/I47519274","display_name":"Taipei Medical University","ror":"https://ror.org/05031qk94","country_code":"TW","type":"education","lineage":["https://openalex.org/I47519274"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Yung-Chen Chien","raw_affiliation_strings":["Division of Reproductive Medicine, Department of Obstetrics and Gynecology, Taipei Medical University Hospital, No. 252, Wusing Street, Sinyi District, Taipei City 110, Taiwan. Electronic address: beccakan@gmail.com"],"raw_orcid":"https://orcid.org/0009-0006-1567-8553","affiliations":[{"raw_affiliation_string":"Division of Reproductive Medicine, Department of Obstetrics and Gynecology, Taipei Medical University Hospital, No. 252, Wusing Street, Sinyi District, Taipei City 110, Taiwan. Electronic address: beccakan@gmail.com","institution_ids":["https://openalex.org/I2802331550","https://openalex.org/I47519274"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027422500","display_name":"Ping\u2010Lun Lin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802331550","display_name":"Taipei Medical University Hospital","ror":"https://ror.org/03k0md330","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I2802331550"]},{"id":"https://openalex.org/I47519274","display_name":"Taipei Medical University","ror":"https://ror.org/05031qk94","country_code":"TW","type":"education","lineage":["https://openalex.org/I47519274"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Ping-Lun Lin","raw_affiliation_strings":["Division of Reproductive Medicine, Department of Obstetrics and Gynecology, Taipei Medical University Hospital, No. 252, Wusing Street, Sinyi District, Taipei City 110, Taiwan. Electronic address: cksace@hotmail.com"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Reproductive Medicine, Department of Obstetrics and Gynecology, Taipei Medical University Hospital, No. 252, Wusing Street, Sinyi District, Taipei City 110, Taiwan. Electronic address: cksace@hotmail.com","institution_ids":["https://openalex.org/I2802331550","https://openalex.org/I47519274"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5148125288","display_name":"Yu-Chio Wang","orcid":"https://orcid.org/0000-0002-5494-6534","observed_orcids":["https://orcid.org/0000-0002-5494-6534"]},"institutions":[{"id":"https://openalex.org/I2802331550","display_name":"Taipei Medical University Hospital","ror":"https://ror.org/03k0md330","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I2802331550"]},{"id":"https://openalex.org/I47519274","display_name":"Taipei Medical University","ror":"https://ror.org/05031qk94","country_code":"TW","type":"education","lineage":["https://openalex.org/I47519274"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Yu-Chio Wang","raw_affiliation_strings":["Division of Reproductive Medicine, Department of Obstetrics and Gynecology, Taipei Medical University Hospital, No. 252, Wusing Street, Sinyi District, Taipei City 110, Taiwan; Graduate Institute of Clinical Medicine, College of Medicine, Taipei Medical University, No. 252, Wusing Street, Sinyi District, Taipei City 110, Taiwan. Electronic address: yuchiowang@gmail.com"],"raw_orcid":"https://orcid.org/0000-0002-5494-6534","affiliations":[{"raw_affiliation_string":"Division of Reproductive Medicine, Department of Obstetrics and Gynecology, Taipei Medical University Hospital, No. 252, Wusing Street, Sinyi District, Taipei City 110, Taiwan; Graduate Institute of Clinical Medicine, College of Medicine, Taipei Medical University, No. 252, Wusing Street, Sinyi District, Taipei City 110, Taiwan. Electronic address: yuchiowang@gmail.com","institution_ids":["https://openalex.org/I2802331550","https://openalex.org/I47519274"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5148049572","display_name":"Jung-Hsiu Hou","orcid":"https://orcid.org/0000-0002-6828-6370","observed_orcids":["https://orcid.org/0000-0002-6828-6370"]},"institutions":[{"id":"https://openalex.org/I2802331550","display_name":"Taipei Medical University Hospital","ror":"https://ror.org/03k0md330","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I2802331550"]},{"id":"https://openalex.org/I47519274","display_name":"Taipei Medical University","ror":"https://ror.org/05031qk94","country_code":"TW","type":"education","lineage":["https://openalex.org/I47519274"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Jung-Hsiu Hou","raw_affiliation_strings":["Division of Reproductive Medicine, Department of Obstetrics and Gynecology, Taipei Medical University Hospital, No. 252, Wusing Street, Sinyi District, Taipei City 110, Taiwan; Graduate Institute of Medical Sciences, College of Medicine, Taipei Medical University, No. 252, Wusing Street, Sinyi District, Taipei City 110, Taiwan. Electronic address: b101099044@tmu.edu.tw"],"raw_orcid":"https://orcid.org/0000-0002-6828-6370","affiliations":[{"raw_affiliation_string":"Division of Reproductive Medicine, Department of Obstetrics and Gynecology, Taipei Medical University Hospital, No. 252, Wusing Street, Sinyi District, Taipei City 110, Taiwan; Graduate Institute of Medical Sciences, College of Medicine, Taipei Medical University, No. 252, Wusing Street, Sinyi District, Taipei City 110, Taiwan. Electronic address: b101099044@tmu.edu.tw","institution_ids":["https://openalex.org/I2802331550","https://openalex.org/I47519274"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5088832041","display_name":"Chi\u2010Huang Chen","orcid":"https://orcid.org/0000-0002-4483-1645","observed_orcids":["https://orcid.org/0000-0002-4483-1645","https://orcid.org/0000-0003-4974-9365"]},"institutions":[{"id":"https://openalex.org/I2802331550","display_name":"Taipei Medical University Hospital","ror":"https://ror.org/03k0md330","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I2802331550"]},{"id":"https://openalex.org/I47519274","display_name":"Taipei Medical University","ror":"https://ror.org/05031qk94","country_code":"TW","type":"education","lineage":["https://openalex.org/I47519274"]}],"countries":["TW"],"is_corresponding":true,"raw_author_name":"Chi-Huang Chen","raw_affiliation_strings":["Division of Reproductive Medicine, Department of Obstetrics and Gynecology, Taipei Medical University Hospital, No. 252, Wusing Street, Sinyi District, Taipei City 110, Taiwan; Graduate Institute of Clinical Medicine, College of Medicine, Taipei Medical University, No. 252, Wusing Street, Sinyi District, Taipei City 110, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, College of Medicine, Taipei Medical University, No. 252, Wusing Street, Sinyi District, Taipei City 110, Taiwan. Electronic address: d102095012@gmail.com"],"raw_orcid":"https://orcid.org/0000-0002-4483-1645","affiliations":[{"raw_affiliation_string":"Division of Reproductive Medicine, Department of Obstetrics and Gynecology, Taipei Medical University Hospital, No. 252, Wusing Street, Sinyi District, Taipei City 110, Taiwan; Graduate Institute of Clinical Medicine, College of Medicine, Taipei Medical University, No. 252, Wusing Street, Sinyi District, Taipei City 110, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, College of Medicine, Taipei Medical University, No. 252, Wusing Street, Sinyi District, Taipei City 110, Taiwan. Electronic address: d102095012@gmail.com","institution_ids":["https://openalex.org/I2802331550","https://openalex.org/I47519274"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5088832041"],"corresponding_institution_ids":["https://openalex.org/I2802331550","https://openalex.org/I47519274"],"apc_list":{"value":0,"currency":"USD","value_usd":0},"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.67755772,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"65","issue":"5","first_page":"986","last_page":"990"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.9901999831199646,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.9901999831199646,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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":0.00419999985024333,"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/T11732","display_name":"Assisted Reproductive Technology and Twin Pregnancy","score":0.00139999995008111,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/preimplantation-genetic-testing-for-monogenic-disorders","display_name":"preimplantation genetic testing for monogenic disorders","score":0.9120000004768372},{"id":"https://openalex.org/keywords/tp63-mutations","display_name":"TP63 mutations","score":0.796999990940094},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.8190000057220459},{"id":"https://openalex.org/keywords/ectrodactyly-ectodermal-dysplasia-clefting-syndrome","display_name":"ectrodactyly-ectodermal dysplasia-clefting syndrome","score":0.925000011920929},{"id":"https://openalex.org/keywords/preimplantation-genetic-testing-for-aneuploidy","display_name":"preimplantation genetic testing for aneuploidy","score":0.9110000133514404},{"id":"https://openalex.org/keywords/ivf-embryo-transfer","display_name":"IVF-embryo transfer","score":0.6700000166893005},{"id":"https://openalex.org/keywords/autosomal-dominant-disorder","display_name":"autosomal dominant disorder","score":0.8479999899864197}],"concepts":[{"id":"https://openalex.org/C2778805741","wikidata":"https://www.wikidata.org/wiki/Q1501356","display_name":"Preimplantation genetic diagnosis","level":3,"score":0.7107999920845032},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6926000118255615},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6733999848365784},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.6553000211715698},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.6517000198364258},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.629800021648407},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4440999925136566},{"id":"https://openalex.org/C48720390","wikidata":"https://www.wikidata.org/wiki/Q5552250","display_name":"Germline mosaicism","level":4,"score":0.44130000472068787},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.38100001215934753},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.37700000405311584},{"id":"https://openalex.org/C61320498","wikidata":"https://www.wikidata.org/wiki/Q265193","display_name":"Microsatellite","level":4,"score":0.37470000982284546},{"id":"https://openalex.org/C2779672484","wikidata":"https://www.wikidata.org/wiki/Q529622","display_name":"Aneuploidy","level":4,"score":0.302700012922287},{"id":"https://openalex.org/C23085057","wikidata":"https://www.wikidata.org/wiki/Q5532877","display_name":"Genetic analysis","level":3,"score":0.27489998936653137},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.2743000090122223},{"id":"https://openalex.org/C160099875","wikidata":"https://www.wikidata.org/wiki/Q237118","display_name":"Embryo transfer","level":3,"score":0.27410000562667847},{"id":"https://openalex.org/C196843134","wikidata":"https://www.wikidata.org/wiki/Q33196","display_name":"Embryo","level":2,"score":0.2669999897480011},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.26170000433921814},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.2533999979496002},{"id":"https://openalex.org/C2781087480","wikidata":"https://www.wikidata.org/wiki/Q17145","display_name":"Sperm","level":2,"score":0.25200000405311584},{"id":"https://openalex.org/C98638677","wikidata":"https://www.wikidata.org/wiki/Q2067051","display_name":"Mutation rate","level":3,"score":0.2517000138759613},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.2502000033855438}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002971","descriptor_name":"Cleft Lip","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D002971","descriptor_name":"Cleft Lip","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002972","descriptor_name":"Cleft Palate","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D002972","descriptor_name":"Cleft Palate","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004476","descriptor_name":"Ectodermal Dysplasia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D004476","descriptor_name":"Ectodermal Dysplasia","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":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018895","descriptor_name":"Microsatellite Repeats","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019836","descriptor_name":"Preimplantation Diagnosis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D025521","descriptor_name":"Tumor Suppressor Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.tjog.2026.04.018","doi":"https://doi.org/10.1016/j.tjog.2026.04.018","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.tjog.2026.04.018","pdf_url":"https://www.sciencedirect.com/science/article/pii/S1028455926002263/pdf","source":{"id":"https://openalex.org/S180931821","display_name":"Taiwanese Journal of Obstetrics and Gynecology","issn_l":"1028-4559","issn":["1028-4559","1875-6263"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","doyens","jufo-1","ki-jl-1","medline"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"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":"Taiwanese Journal of Obstetrics and Gynecology","raw_type":"journal-article"},{"id":"pmid:42642160","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42642160","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":"Taiwanese journal of obstetrics & gynecology","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.1016/j.tjog.2026.04.018","doi":"https://doi.org/10.1016/j.tjog.2026.04.018","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.tjog.2026.04.018","pdf_url":"https://www.sciencedirect.com/science/article/pii/S1028455926002263/pdf","source":{"id":"https://openalex.org/S180931821","display_name":"Taiwanese Journal of Obstetrics and Gynecology","issn_l":"1028-4559","issn":["1028-4559","1875-6263"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","doyens","jufo-1","ki-jl-1","medline"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"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":"Taiwanese Journal of Obstetrics and Gynecology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7204196276.pdf","grobid_xml":"https://content.openalex.org/works/W7204196276.grobid-xml"},"referenced_works_count":15,"referenced_works":["https://openalex.org/W2050950758","https://openalex.org/W2098807883","https://openalex.org/W2161135340","https://openalex.org/W3030030551","https://openalex.org/W3048573041","https://openalex.org/W3081149540","https://openalex.org/W3095277315","https://openalex.org/W3153313182","https://openalex.org/W3157402355","https://openalex.org/W3163607964","https://openalex.org/W4315435561","https://openalex.org/W4385969598","https://openalex.org/W4386422148","https://openalex.org/W4403867208","https://openalex.org/W4406171109"],"related_works":[],"abstract_inverted_index":{"OBJECTIVE:":[0],"Ectrodactyly-ectodermal":[1],"dysplasia-clefting":[2],"(EEC)":[3],"syndrome":[4],"is":[5],"a":[6,34,39,49,57,128,142],"rare":[7],"autosomal":[8],"dominant":[9],"disorder":[10],"caused":[11],"by":[12],"TP63":[13,42,51,114],"variants.":[14],"De":[15],"novo":[16,41,148],"mutations":[17],"challenge":[18],"preimplantation":[19,100],"genetic":[20,101],"testing":[21,102],"for":[22,38,103,112,146],"monogenic":[23],"disorders":[24],"(PGT-M)":[25],"when":[26],"informative":[27,85],"relatives":[28],"are":[29],"unavailable.":[30],"This":[31,136],"report":[32],"describes":[33],"proband-independent":[35,143],"PGT-M":[36,72,98,144],"workflow":[37,73],"de":[40,147],"variant.":[43,134],"CASE":[44],"REPORT:":[45],"Whole-exome":[46],"sequencing":[47],"identified":[48],"heterozygous":[50],"c.925A":[52],">":[53],"G":[54],"variant":[55],"in":[56,67,127],"34-year-old":[58],"male":[59],"with":[60,63,78],"EEC":[61,150],"features,":[62],"germline":[64],"transmission":[65],"confirmed":[66],"sperm":[68],"DNA.":[69],"A":[70],"customized":[71],"combined":[74,97],"direct":[75],"mutation":[76],"detection":[77],"short":[79],"tandem":[80],"repeat-based":[81],"haplotype":[82],"analysis":[83],"using":[84],"markers":[86],"closely":[87],"linked":[88],"to":[89],"TP63.":[90],"Embryos":[91],"from":[92],"three":[93],"IVF":[94],"cycles":[95],"underwent":[96],"and":[99,116],"aneuploidy":[104],"(PGT-A).":[105],"Among":[106],"17":[107],"blastocysts,":[108],"6":[109],"were":[110,118],"low-risk":[111,124],"the":[113,132,139],"variant,":[115],"2":[117],"euploid.":[119],"Transfer":[120],"of":[121,141],"one":[122],"euploid,":[123],"embryo":[125],"resulted":[126],"healthy":[129],"infant":[130],"without":[131],"pathogenic":[133],"CONCLUSION:":[135],"case":[137],"supports":[138],"feasibility":[140],"strategy":[145],"TP63-related":[149],"syndrome.":[151]},"counts_by_year":[],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2026-08-26T00:00:00"}