{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T22:45:43Z","timestamp":1774392343882,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,5,21]],"date-time":"2012-05-21T00:00:00Z","timestamp":1337558400000},"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":["Int J Dermatology"],"published-print":{"date-parts":[[2012,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Acro\u2010dermato\u2010ungual\u2010lacrimal\u2010tooth (ADULT) syndrome is a rare, autosomal dominant form of ectodermal dysplasia due to <jats:italic>TP63<\/jats:italic> mutations. ADULT syndrome is much less common than the more classical forms of <jats:italic>TP63<\/jats:italic>\u2010associated ectodermal dysplasias, such as ectrodactyly\u2013ectodermal dysplasia\u2013cleft lip\/palate (EEC) syndrome and ankyloblepharon\u2013ectodermal defects\u2013cleft lip\/palate syndrome. ADULT syndrome is characterized by ectrodactyly, syndactyly, and excessive freckling, in addition to more typical ectodermal defects, including hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Unlike some of the other <jats:italic>TP63<\/jats:italic>\u2010associated ectodermal dysplasias, ADULT syndrome lacks clefting and ankyloblepharon. Here, we report a three\u2010generation family with ADULT syndrome due to an R243W mutation in <jats:italic>TP63<\/jats:italic>, a mutation that has previously been described in one patient with ADULT syndrome and eight unrelated patients with EEC syndrome.<\/jats:p>","DOI":"10.1111\/j.1365-4632.2011.05375.x","type":"journal-article","created":{"date-parts":[[2012,5,21]],"date-time":"2012-05-21T09:57:08Z","timestamp":1337594228000},"page":"693-696","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["ADULT syndrome due to an R243W mutation in <i>TP63<\/i>"],"prefix":"10.1111","volume":"51","author":[{"given":"David R.","family":"Berk","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole L.","family":"Armstrong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marwan","family":"Shinawi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alison J.","family":"Whelan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,5,21]]},"reference":[{"key":"e_1_2_4_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450525"},{"key":"e_1_2_4_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200676"},{"key":"e_1_2_4_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.7.799"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2004.01643.x"},{"key":"e_1_2_4_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30900"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201640"},{"key":"e_1_2_4_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31482"},{"key":"e_1_2_4_9_2","first-page":"1867","article-title":"Mutation analysis of p63 gene in the first Chinese family with ADULT syndrome","volume":"122","author":"Wang X","year":"2009","journal-title":"Chin Med J (Engl)"},{"key":"e_1_2_4_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32881"},{"key":"e_1_2_4_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2010.01131.x"},{"key":"e_1_2_4_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81646-3"},{"key":"e_1_2_4_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32415"},{"key":"e_1_2_4_14_2","doi-asserted-by":"publisher","DOI":"10.1177\/0022034510366804"},{"key":"e_1_2_4_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31271"},{"key":"e_1_2_4_16_2","doi-asserted-by":"publisher","DOI":"10.1086\/323123"},{"key":"e_1_2_4_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0736-0266(03)00166-9"},{"key":"e_1_2_4_18_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09859.x"},{"key":"e_1_2_4_19_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2009.00976.x"}],"container-title":["International Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-4632.2011.05375.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-4632.2011.05375.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,14]],"date-time":"2023-10-14T21:58:07Z","timestamp":1697320687000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-4632.2011.05375.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5,21]]},"references-count":18,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,6]]}},"alternative-id":["10.1111\/j.1365-4632.2011.05375.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-4632.2011.05375.x","archive":["Portico"],"relation":{},"ISSN":["0011-9059","1365-4632"],"issn-type":[{"value":"0011-9059","type":"print"},{"value":"1365-4632","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,5,21]]},"assertion":[{"value":"2012-05-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}