{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T10:02:17Z","timestamp":1779789737128,"version":"3.53.1"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,7,23]],"date-time":"2025-07-23T00:00:00Z","timestamp":1753228800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,7,23]],"date-time":"2025-07-23T00:00:00Z","timestamp":1753228800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Hypohidrotic ectodermal dysplasias are a genetic condition affecting ectoderm\u2010derived structures such as hair, teeth, nails, and sweat glands, resulting from variations in the\n                    <jats:italic>EDA<\/jats:italic>\n                    ,\n                    <jats:italic>EDAR<\/jats:italic>\n                    ,\n                    <jats:italic>EDARADD<\/jats:italic>\n                    , and\n                    <jats:italic>WNT10A<\/jats:italic>\n                    genes. This study examined 32 cases from 25 unrelated families from T\u00fcrkiye, identifying seven novel variants in the\n                    <jats:italic>EDA<\/jats:italic>\n                    ,\n                    <jats:italic>EDAR<\/jats:italic>\n                    , and\n                    <jats:italic>WNT10A<\/jats:italic>\n                    genes. The distribution of genetic alterations across the cohort revealed that 44% of the families (11\/25) harbored variants in EDA, whereas EDAR and WNT10A variants were identified in 32% (8\/25) and 24% (6\/25) of families, respectively. Clinical evaluation revealed the characteristic hypohidrotic ectodermal dysplasia triad of hypotrichosis, hypodontia, and hypohidrosis was observed in 87.5% of cases, along with other symptoms such as dry skin, atopic dermatitis, and developmental delays. All cases presented with hair, eyebrow, and eyelash abnormalities, ranging in severity from subtle thinning to marked hypotrichosis. Among the cohort, one case exhibited severe atopic dermatitis as the predominant symptom. Targeted next\u2010generation sequencing and clinical exome sequencing were employed to determine the genetic basis of the condition, emphasizing the importance of early diagnosis for targeted interventions. This study expands the genetic and phenotypic spectrum of hypohidrotic ectodermal dysplasia, presenting a comprehensive overview of molecular findings and genotype\u2013phenotype correlations in the population from the Turkish population.\n                  <\/jats:p>","DOI":"10.1111\/cge.70030","type":"journal-article","created":{"date-parts":[[2025,7,24]],"date-time":"2025-07-24T00:43:03Z","timestamp":1753317783000},"page":"122-129","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6579-6132","authenticated-orcid":false,"given":"Zeynep","family":"Esener","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Balikesir University  Balikesir T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2692-4522","authenticated-orcid":false,"given":"Mehmet Akif","family":"Y\u00fccesoy","sequence":"additional","affiliation":[{"name":"Departments of Medical Genetics, Istanbul Faculty of Medicine Istanbul University  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2432-9279","authenticated-orcid":false,"given":"Alper","family":"Gezdirici","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Health Basaksehir Cam and Sakura City Hospital  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0464-6565","authenticated-orcid":false,"given":"Mustafa","family":"Dogan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Health Basaksehir Cam and Sakura City Hospital  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9647-8970","authenticated-orcid":false,"given":"Ayberk","family":"Turkyilmaz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Karadeniz Technical University  Trabzon T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3300-8020","authenticated-orcid":false,"given":"Ibrahim","family":"Tekedereli","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Inonu University  Malatya T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3475-564X","authenticated-orcid":false,"given":"Hasan","family":"Bas","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Intergen Genetics and Rare Diseases Diagnosis Center  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8730-3968","authenticated-orcid":false,"given":"Aysel","family":"Tekmenuray\u2010Unal","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Antalya Education and Research Hospital  Antalya T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2595-3919","authenticated-orcid":false,"given":"Sinem","family":"Kocagil","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Eskisehir Osmangazi University  Eskisehir T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6226-4712","authenticated-orcid":false,"given":"Senol","family":"Citli","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Recep Tayyip Erdogan University  Rize T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3308-2511","authenticated-orcid":false,"given":"Murat","family":"Ozturk","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Batman Training and Research Hospital Batman  T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8716-3288","authenticated-orcid":false,"given":"Emine Ipek","family":"Ceylan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Dr. Abdurrahman Yurtaslan Ankara Oncology Training and Research Hospital  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8777-3548","authenticated-orcid":false,"given":"Volkan","family":"Karaman","sequence":"additional","affiliation":[{"name":"Departments of Medical Genetics, Istanbul Faculty of Medicine Istanbul University  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1770-1762","authenticated-orcid":false,"given":"Ayca Dilruba","family":"Aslanger","sequence":"additional","affiliation":[{"name":"Departments of Medical Genetics, Istanbul Faculty of Medicine Istanbul University  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,7,23]]},"reference":[{"key":"e_1_2_11_2_1","volume-title":"Hypohidrotic Ectodermal Dysplasia","author":"Wright J. T.","year":"1993"},{"key":"e_1_2_11_3_1","unstructured":"V. D.MajmundarandK.Baxi \u201cEctodermal Dysplasia \u201d(2024) StatPearls. FL. Treasure Island (FL) Ineligible Companies."},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2024.0036"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63832"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.084012"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35959"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61045"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes13122327"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.11.1661"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.131076098"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M008356200"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.033910"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2009.05.011"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-020-02199-3"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1251-x"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21384"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13147"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12091389"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1159\/000499325"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.03.005"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0895-409"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20295"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32509"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12151"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-016-0349-4"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20215282"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.06.001"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70030","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70030","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70030","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T09:02:43Z","timestamp":1779786163000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70030"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,23]]},"references-count":28,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1111\/cge.70030"],"URL":"https:\/\/doi.org\/10.1111\/cge.70030","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.70030\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70030\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70030\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70030\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70030\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70030\/v2\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,23]]},"assertion":[{"value":"2025-04-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-15","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}