{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T13:53:26Z","timestamp":1726149206948},"reference-count":12,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,4,24]],"date-time":"2014-04-24T00:00:00Z","timestamp":1398297600000},"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":[[2014,8]]},"abstract":"<jats:sec><jats:label \/><jats:p>We report on a 2\u2010year\u2010old girl presenting with a severe form of hypohidrotic ectodermal dysplasia (HED). The patient presented with hypotrichosis, anodontia, hypohidrosis, frontal bossing, prominent lips and ears, dry, pale skin, and dermatitis. The patient had chronic rhinitis with malodorous nasal discharge. The girl was the second born child of first\u2010cousin immigrants from Northern Iraq. A novel homozygous mutation (c.84delC) in the <jats:italic>EDAR<\/jats:italic> gene was identified. This mutation most likely causes a frameshift in the protein product (p.S29fs*74). This results in abolition of all ectodysplasin\u2010mediated NF\u2010kB signalling. This complete loss\u2010of\u2010function mutation likely accounts for the severe clinical abnormalities in ectodermal structures in the described patient. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36582","type":"journal-article","created":{"date-parts":[[2014,4,24]],"date-time":"2014-04-24T19:22:49Z","timestamp":1398367369000},"page":"2059-2061","source":"Crossref","is-referenced-by-count":9,"title":["A novel mutation in the <i>EDAR<\/i> gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia"],"prefix":"10.1002","volume":"164","author":[{"given":"Emil","family":"Henningsen","sequence":"first","affiliation":[{"name":"Department of Dermatology and Allergy Centre Odense University Hospital Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mathias Tiedemann","family":"Svendsen","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergy Centre Odense University Hospital Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorte Launholt","family":"Lildballe","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter Kjestrup Axel","family":"Jensen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,4,24]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks400"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.62.10.989"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21384"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5202012"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32852"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30033"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.129.10.2541"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq330"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530207"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1567-133X(03)00092-9"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32804"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"}],"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.36582","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36582","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T05:29:58Z","timestamp":1696570198000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36582"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,24]]},"references-count":12,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["10.1002\/ajmg.a.36582"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36582","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4,24]]}}}