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Article

Blepharocheilodontic (BCD) syndrome: expanding the phenotype?

American journal of medical genetics. Part A - 1 Sept 2003

Gil da Silva Lopes Vera Lúcia, Guion-Almeida Maria Leine, de Oliveira Rodini Elaine Sbroggio

Abstract excerpt

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 previou...

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Source

Identifiers

PMID: 12923869
DOI: 10.1002/ajmg.a.20223

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12923869-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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