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. 2003 Sep 1;121A(3):266-70.
doi: 10.1002/ajmg.a.20223.

Blepharocheilodontic (BCD) syndrome: expanding the phenotype?

Vera Lúcia Gil da Silva Lopes  1 , Maria Leine Guion-Almeida, Elaine Sbroggio de Oliveira Rodini
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Blepharocheilodontic (BCD) syndrome: expanding the phenotype?

Vera Lúcia Gil da Silva Lopes et al. Am J Med Genet A. .

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.

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