{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:20:16Z","timestamp":1747182016840,"version":"3.40.5"},"reference-count":14,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2023,6,2]],"date-time":"2023-06-02T00:00:00Z","timestamp":1685664000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pathogenic variants in the <jats:italic>EDARADD<\/jats:italic> gene result in autosomal recessive and autosomal dominant ectodermal dysplasia. This article reports on the fourth family in the world with ectodermal dysplasia 11A (ECTD11A) cause from a novel splicing variant in the <jats:italic>EDARADD<\/jats:italic> gene, identified by whole exome sequencing and confirmed by Sanger sequencing. The proband and his mother were heterozygous for the detected variant (NM_145861.4:c.161\u20102A&gt;T). The proband manifests unusual symptoms including hyperkeratotic plaques, slow\u2010growing hair, recurrent infection, and pectus excavatum. His mother presents hypohidrosis, extensive tooth decay, fragile nails, and sparse hair. Further studies on ECTD11A patients could be useful to characterizing the phenotype features more precisely.<\/jats:p>","DOI":"10.1111\/1346-8138.16849","type":"journal-article","created":{"date-parts":[[2023,6,3]],"date-time":"2023-06-03T05:34:15Z","timestamp":1685770455000},"page":"1357-1362","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel insight into the ectodermal dysplasia <scp>11A<\/scp>: Splicing variant of the <scp><i>EDARADD<\/i><\/scp> gene in a family with clinical variability and literature review"],"prefix":"10.1111","volume":"50","author":[{"given":"Negin","family":"Fazelzadeh\u00a0Haghighi","sequence":"first","affiliation":[{"name":"Dermatology Department Shiraz University of Medical Sciences  Shiraz Iran"},{"name":"Molecular Dermatology Research Center Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neda","family":"Kamal","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7703-7387","authenticated-orcid":false,"given":"Hossein","family":"Jafari\u00a0Khamirani","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryam","family":"Fazelzadeh\u00a0Haghighi","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, School of Advanced Technologies Shahrekord University of Medical Sciences  Shahrekord Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seyed Alireza","family":"Dastgheib","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehdi","family":"Dianatpour","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shiraz University of Medical Sciences  Shiraz Iran"},{"name":"Stem Cells Technology Research Center Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9923-6969","authenticated-orcid":false,"given":"Seyed Mohammad Bagher","family":"Tabei","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shiraz University of Medical Sciences  Shiraz Iran"},{"name":"Maternal\u2010fetal Medicine Research Center Shiraz University of Medical Sciences  Shiraz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,6,2]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530207"},{"key":"e_1_2_11_3_1","doi-asserted-by":"crossref","unstructured":"WohlfartS StephanS SmahiA SchneiderH.A Novel missense mutation in the gene EDARADD associated with an unusual phenotype of Hypohidrotic ectodermal dysplasia. 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