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Article

Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.

Human mutation - 1 Nov 2015

Brito Luciano Abreu, Yamamoto Guilherme Lopes, Melo Soraia, Malcher Carolina, Ferreira Simone Gomes, Figueiredo Joana, Alvizi Lucas, Kobayashi Gerson Shigeru, Naslavsky Michel Satya, Alonso Nivaldo, Felix Temis Maria, Zatz Mayana, Seruca Raquel, Passos-Bueno Maria Rita

Abstract excerpt

Nonsyndromic orofacial cleft (NSOFC) is a complex disease of still unclear genetic etiology. To investigate the contribution of rare epithelial cadherin (CDH1) gene variants to NSOFC, we target sequenced 221 probands. Candidate variants were evaluated via in vitro, in silico, or segregation analy...

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Identifiers

PMID: 26123647
DOI: 10.1002/humu.22827

Genes

CDH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26123647-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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