{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T18:39:31Z","timestamp":1758393571567},"reference-count":7,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,9,10]],"date-time":"2014-09-10T00:00:00Z","timestamp":1410307200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ectodermal dysplasias caused by mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">TP<\/jats:styled-content>63<\/jats:italic> gene comprise a group of disorders characterized by a spectrum of ectodermal changes, orofacial clefting, and split hand or foot malformation. We report on a boy with a mutation located in the <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\u2010binding domain of the <jats:italic><jats:styled-content style=\"fixed-case\">TP<\/jats:styled-content>63<\/jats:italic> gene with atypical phenotype. These data provide additional evidence of the great variability seen in <jats:italic><jats:styled-content style=\"fixed-case\">TP<\/jats:styled-content>63<\/jats:italic>\u2010related disorders and further delineation of genotype\u2010phenotype correlations.<\/jats:p>","DOI":"10.1111\/pde.12395","type":"journal-article","created":{"date-parts":[[2014,9,11]],"date-time":"2014-09-11T02:07:24Z","timestamp":1410401244000},"page":"421-422","source":"Crossref","is-referenced-by-count":3,"title":["Ectodermal Defects and Anal Atresia in a Child with a <i><scp>TP<\/scp>63<\/i> Mutation\u2010Expanding the Phenotypic Spectrum"],"prefix":"10.1111","volume":"32","author":[{"given":"Jelena","family":"Ruml","sequence":"first","affiliation":[{"name":"Department of Medical Genetics University Children's Hospital Belgrade Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Goran","family":"Cuturilo","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Children's Hospital Belgrade Serbia"},{"name":"Faculty of Medicine Belgrade University Belgrade Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marija","family":"Lukac","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Belgrade University Belgrade Serbia"},{"name":"Department of Neonatal Surgery University Children's Hospital Belgrade Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hartmut","family":"Peters","sequence":"additional","affiliation":[{"name":"Institute of Medical and Human Genetics Charite\u2010Universitaetsmedizin Berlin Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,9,10]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"127","article-title":"Anal atresia and abdominal wall defect as unusual symptoms in EEC syndrome","volume":"6","author":"Smet L","year":"1995","journal-title":"Genet Couns"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34328"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00384-013-1725-6"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31271"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0035337"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.6.3.3796"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/323123"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.12395","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.12395","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T13:05:15Z","timestamp":1696165515000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.12395"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,10]]},"references-count":7,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,5]]}},"alternative-id":["10.1111\/pde.12395"],"URL":"https:\/\/doi.org\/10.1111\/pde.12395","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,10]]}}}