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Type: Artigo de periódico
Title: Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Associated With p63 Mutation and an Uncommon Phenotype
Author: Paranaiba, LMR
Martelli, H
de Miranda, RT
Bufalino, A
Abdo, RC
Coletta, RD
Abstract: 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 3q27-29 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.
Subject: clinical features
ectrodactyly-ectodermal dysplasia-clefting syndrome
p63 mutation
Country: EUA
Editor: Alliance Communications Group Division Allen Press
Citation: Cleft Palate-craniofacial Journal. Alliance Communications Group Division Allen Press, v. 47, n. 5, n. 544, n. 547, 2010.
Rights: fechado
Identifier DOI: 10.1597/09-063
Date Issue: 2010
Appears in Collections:Unicamp - Artigos e Outros Documentos

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