Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Associated With p63 Mutation and an Uncommon Phenotype

dc.creatorParanaiba, LMR
dc.creatorMartelli, H
dc.creatorde Miranda, RT
dc.creatorBufalino, A
dc.creatorAbdo, RC
dc.creatorColetta, RD
dc.date2010
dc.dateSEP
dc.date2014-11-20T06:49:01Z
dc.date2015-11-26T17:16:46Z
dc.date2014-11-20T06:49:01Z
dc.date2015-11-26T17:16:46Z
dc.date.accessioned2018-03-29T00:04:55Z
dc.date.available2018-03-29T00:04:55Z
dc.identifierCleft Palate-craniofacial Journal. Alliance Communications Group Division Allen Press, v. 47, n. 5, n. 544, n. 547, 2010.
dc.identifier1055-6656
dc.identifierWOS:000281619700015
dc.identifier10.1597/09-063
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/63670
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/63670
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/63670
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1282351
dc.descriptionEctrodactyly-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 3q27-29 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.
dc.description47
dc.description5
dc.description544
dc.description547
dc.languageen
dc.publisherAlliance Communications Group Division Allen Press
dc.publisherLawrence
dc.publisherEUA
dc.relationCleft Palate-craniofacial Journal
dc.relationCleft Palate-Craniofac. J.
dc.rightsfechado
dc.sourceWeb of Science
dc.subjectclinical features
dc.subjectectrodactyly-ectodermal dysplasia-clefting syndrome
dc.subjectfreckles
dc.subjectp63 mutation
dc.subjectEec-syndrome
dc.subjectP53 Homolog
dc.subjectGene
dc.titleEctrodactyly-Ectodermal Dysplasia-Clefting Syndrome Associated With p63 Mutation and an Uncommon Phenotype
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución