Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/55771
Type: Artigo de periódico
Title: Blepharocheilodontic (BCD) syndrome: Expanding the phenotype?
Author: Lopes, VLGS
Guion-Almeida, ML
Rodini, ESD
Abstract: We describe affected individuals in three generations of a family and another sporadic case, all Brazilian patients, with a combination of signs that diagnose the BCD syndrome. In addition to the cardinal signs, the sporadic case has hypothyroidism and imperforate anus, which was observed previously in one patient. The broadened phenotype and the possibility of involvement of p63 and IRF6 genes in this condition are discussed. (C) 2003 Wiley-Liss, Inc.
Subject: ectodermal dysplasia
ankyloblepharon
cleft lip/palate
imperforate
anus
autosomal dominant inheritance
p63 gene
IRF6 gene
Country: EUA
Editor: Wiley-blackwell
Rights: fechado
Identifier DOI: 10.1002/ajmg.a.20223
Date Issue: 2003
Appears in Collections:Unicamp - Artigos e Outros Documentos

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