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Examination of his hands showed ulnar ray hypoplasia with bilateral fifth finger brachydactyly and camptodactyly. He also had surgical repair of an imperforate anus. Mutation analysis of <jats:italic>TP63<\/jats:italic> showed a single nucleotide substitution, c.G518A, predicting a novel missense mutation, p.V114M in exon 4. This is the third mutation to be reported in <jats:italic>TP63<\/jats:italic> in ADULT syndrome. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30900","type":"journal-article","created":{"date-parts":[[2005,8,19]],"date-time":"2005-08-19T22:47:17Z","timestamp":1124491637000},"page":"146-149","source":"Crossref","is-referenced-by-count":20,"title":["Acro\u2010dermato\u2010ungual\u2010lacrimal\u2010tooth (ADULT) syndrome: Report of a child with phenotypic overlap with ulnar\u2010mammary syndrome and a new mutation in <i>TP63<\/i>"],"prefix":"10.1002","volume":"138A","author":[{"given":"Anne M.","family":"Slavotinek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"June","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alison","family":"Winder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin","family":"Vargervik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anita","family":"Haggstrom","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Bamshad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,8,19]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200676"},{"key":"e_1_2_4_3_1","volume-title":"p63 and the ectodermal dysplasia, ectrodactyly, and cleft lip and\/or palate (EEC) syndrome, limb\u2010mammary (LMS), ankylobelpharon, ectrodactyly, and cleft lip\/palate (AEC, Hay\u2010Wells), and acro\u2010dermato\u2010ungual\u2010lacrimal\u2010digit (ADULT) syndromes and ectrodactyly (split hand\/foot malformation) in Inborn Errors of Development","author":"Bamshad M","year":"2004"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-311"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/302417"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10778"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1205476"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2004.01643.x"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00431"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.7.799"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.3.221"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2002.21.8.921"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450525"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000117)90:2<179::AID-AJMG21>3.0.CO;2-M"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10447"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.12.778"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/302246"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/323123"}],"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.30900","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30900","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T21:19:33Z","timestamp":1697663973000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30900"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,8,19]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,10]]}},"alternative-id":["10.1002\/ajmg.a.30900"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30900","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,8,19]]}}}