{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T20:40:10Z","timestamp":1785530410054,"version":"3.56.0"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,10,5]],"date-time":"2015-10-05T00:00:00Z","timestamp":1444003200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>Hypohidrotic ectodermal dysplasia (HED) is a rare disorder characterized by deficient development of structures derived from the ectoderm including hair, nails, eccrine glands, and teeth. HED forms that are caused by mutations in the genes <jats:italic>EDA<\/jats:italic>, <jats:italic>EDAR<\/jats:italic>, or <jats:italic>EDARADD<\/jats:italic> may show almost identical phenotypes, explained by a common signaling pathway. Proper interaction of the proteins encoded by these three genes is important for the activation of the NF\u2010\u03baB signaling pathway and subsequent transcription of the target genes. Mutations in the gene <jats:italic>EDARADD<\/jats:italic> are most rarely implicated in HED. Here we describe a novel missense mutation, c.367G&gt;A (p.Asp123Asn), in this gene which did not appear to influence the interaction between EDAR and EDARADD proteins, but led to an impaired ability to activate NF\u2010\u03baB signaling. Female members of the affected family showed either unilateral or bilateral amazia. In addition, an affected girl developed bilateral ovarian teratomas, possibly associated with her genetic condition. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37412","type":"journal-article","created":{"date-parts":[[2015,10,6]],"date-time":"2015-10-06T04:42:56Z","timestamp":1444106576000},"page":"249-253","source":"Crossref","is-referenced-by-count":29,"title":["A novel missense mutation in the gene <i>EDARADD<\/i> associated with an unusual phenotype of hypohidrotic ectodermal dysplasia"],"prefix":"10.1002","volume":"170","author":[{"given":"Sigrun","family":"Wohlfart","sequence":"first","affiliation":[{"name":"Department of Pediatrics German Competence Center for Children with Ectodermal Dysplasias University Hospital Erlangen Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"S\u00f6der","sequence":"additional","affiliation":[{"name":"Department of Pathology University Hospital Erlangen Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asma","family":"Smahi","sequence":"additional","affiliation":[{"name":"Department of Genetics INSERM U781 H\u00f4pital Necker\u2010Enfants Malades Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holm","family":"Schneider","sequence":"additional","affiliation":[{"name":"Department of Pediatrics German Competence Center for Children with Ectodermal Dysplasias University Hospital Erlangen Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,10,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.13023"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20500"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.earlhumdev.2010.04.008"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.02.013"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36541"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.14219\/jada.archive.2008.0132"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09670.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.62.10.989"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21384"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-013-1985-8"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/414913a"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0895-409"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.12493"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10911-013-9277-5"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/11937"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.15373\/2249555X\/July2014\/132"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-6343.2010.01484.x"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1126\/stke.2002.131.pe22"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(02)00687-5"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37412","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37412","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T04:47:04Z","timestamp":1696567624000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37412"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10,5]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,1]]}},"alternative-id":["10.1002\/ajmg.a.37412"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37412","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,10,5]]}}}