{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T04:59:09Z","timestamp":1789534749402,"version":"build-2803163510"},"reference-count":11,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2010,9,1]],"date-time":"2010-09-01T00:00:00Z","timestamp":1283299200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2010,9]]},"abstract":"<jats:p>Ectrodactyly-ectodermal dysplasia-clefting syndrome is an uncommon disorder that includes a clinical spectrum of limb, facial, ocular, internal ear, and urogenital malformations. The disease is caused by heterozygous mutations in the 3q27\u201329 located p63 gene. In this paper we describe a 17-year-old girl affected by ectrodactyly-ectodermal dysplasia-clefting syndrome with a de novo p63 mutation that predicts a heterozygous missense substitution (arginine to tryptophan substitution caused by a cytosine to thymine transition) at the amino acid 304 (R304W) of the p63 DNA-binding domain. Scattered freckles on face, legs, and abdominal region, an uncommon feature associated with this syndrome, were recognized in our patient. The clinical features and genotype-phenotype correlation with previous p63 mutations related to the syndrome are discussed and compared with those observed in our patient. This case expands the phenotypic spectrum of ectrodactyly-ectodermal dysplasia-clefting syndrome.<\/jats:p>","DOI":"10.1597\/09-063","type":"journal-article","created":{"date-parts":[[2010,2,24]],"date-time":"2010-02-24T17:45:48Z","timestamp":1267033548000},"page":"544-547","source":"Crossref","is-referenced-by-count":5,"title":["Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Associated with\n                    <i>p<\/i>\n                    63 Mutation and an Uncommon Phenotype"],"prefix":"10.1177","volume":"47","author":[{"given":"L\u00edvia M\u00e1ris Ribeiro","family":"Parana\u00edba","sequence":"first","affiliation":[{"name":"Department of Oral Diagnosis, School of Dentistry, State University of Campinas, Piracicaba, S\u00e3o Paulo, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herc\u00edlio","family":"Martelli-J\u00fanior","sequence":"additional","affiliation":[{"name":"Dental School, University of Alfenas, Alfenas, Minas Gerais, Brazil, and Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roseli Teixeira","family":"De Miranda","sequence":"additional","affiliation":[{"name":"Dental School, University of Alfenas, Alfenas, Minas Gerais, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9ia","family":"Bufalino","sequence":"additional","affiliation":[{"name":"Department of Oral Diagnosis, School of Dentistry, State University of Campinas, Piracicaba, S\u00e3o Paulo, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruy Camargo Abdo","family":"Filho","sequence":"additional","affiliation":[{"name":"Medical School, University of Alfenas, Alfenas, Minas Gerais, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo D.","family":"Coletta","sequence":"additional","affiliation":[{"name":"Department of Oral Diagnosis, School of Dentistry, State University of Campinas, Piracicaba, S\u00e3o Paulo, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2010,9,1]]},"reference":[{"key":"bibr1-09-063","doi-asserted-by":"publisher","DOI":"10.1590\/S0103-64402007000200012"},{"key":"bibr2-09-063","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.6.377"},{"key":"bibr3-09-063","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.9.716"},{"key":"bibr4-09-063","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81646-3"},{"key":"bibr5-09-063","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2004.01643.x"},{"key":"bibr6-09-063","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.4.281"},{"key":"bibr7-09-063","doi-asserted-by":"publisher","DOI":"10.4161\/cc.6.3.3796"},{"key":"bibr8-09-063","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31271"},{"key":"bibr9-09-063","doi-asserted-by":"publisher","DOI":"10.1016\/S0007-1226(61)80036-2"},{"key":"bibr10-09-063","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1970.02100070104016"},{"key":"bibr11-09-063","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80275-0"}],"container-title":["The Cleft Palate Craniofacial Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/09-063","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1597\/09-063","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/09-063","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:16:22Z","timestamp":1777392982000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1597\/09-063"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9]]},"references-count":11,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2010,9]]}},"alternative-id":["10.1597\/09-063"],"URL":"https:\/\/doi.org\/10.1597\/09-063","relation":{},"ISSN":["1055-6656","1545-1569"],"issn-type":[{"value":"1055-6656","type":"print"},{"value":"1545-1569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,9]]}}}