{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T18:47:20Z","timestamp":1791139640559,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2011,11,7]],"date-time":"2011-11-07T00:00:00Z","timestamp":1320624000000},"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":[[2012,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a mother and son who were affected with split hand\u2010split foot (formerly described as ectrodactyly), ectodermal dysplasia, hyperpigmentation of skin, and dystrophic nails. Their hair was wiry, brownish, and slow\u2010growing. Scanning electron micrography of their scalp hair showed hypoplastic hair bulbs, partial loss of hair cuticles, and frayed hair shafts. The son was affected with amelogenesis Imperfecta (hypocalcification, hypoplasia, and hypomaturation types), in the primary and permanent dentition. An unerupted supernumerary maxillary second premolar and fusion of mandibular incisors were observed in the primary dentition and their permanent successors. Mutation analysis showed a c.588\u20102A\u2009&gt;\u2009C mutation in <jats:italic>TP63<\/jats:italic> in the mother and her son. It is predicted that an alternative splice site was used, specifically the AG located just three nucleotides upstream. Use of this site is predicted to include three extra nucleotides in the transcript and thus incorporation of a single extra amino acid (p.Thr195_Tyr196insPro). This is the first time that amelogenesis imperfecta, fusion of teeth, and a supernumerary premolar have been shown to be associated with a <jats:italic>TP63<\/jats:italic> mutation. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34356","type":"journal-article","created":{"date-parts":[[2011,11,7]],"date-time":"2011-11-07T21:46:10Z","timestamp":1320702370000},"page":"188-192","source":"Crossref","is-referenced-by-count":10,"title":["Split hand\u2010split foot\u2010ectodermal dysplasia and amelogenesis imperfecta with a <i>TP63<\/i> mutation"],"prefix":"10.1002","volume":"158A","author":[{"given":"Piranit N.","family":"Kantaputra","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oranart","family":"Matangkasombut","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Warissara","family":"Sripathomsawat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,11,7]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bti770"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81646-3"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1013657108"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1080\/00016350500443206"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/elps.1150181505"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/302972"},{"key":"e_1_2_5_8_1","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1002\/(SICI)1096-8628(19981012)79:5<343::AID-AJMG3>3.0.CO;2-K","article-title":"Rapp\u2010Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: Newly recognized findings","volume":"79","author":"Kantaputra PN","year":"1998","journal-title":"Am J Med Genet Part A"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910308200606"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34011"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/18.9.1250"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036442"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.3.221"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.6.3.3796"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg520"},{"key":"e_1_2_5_16_1","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/ajmg.a.33768","article-title":"Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome","volume":"155","author":"Sripathomsawat W","year":"2010","journal-title":"Am J Med Genet Part A"},{"key":"e_1_2_5_17_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.34356","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34356","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T13:18:38Z","timestamp":1700572718000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34356"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11,7]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,1]]}},"alternative-id":["10.1002\/ajmg.a.34356"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34356","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,11,7]]}}}