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Nat Genet. 2001 Oct;29(2):141-2.

Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela.

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1
Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver, Colorado, USA.

Abstract

Non-syndromic cleft lip with or without cleft palate (CL/P, MIM 119530) is among the most common of major birth defects. Homozygosity for a nonsense mutation of PVRL1, W185X, results in an autosomal recessive CL/P syndrome on Margarita Island, CLPED1 (ref. 1). Here we demonstrate highly significant association between heterozygosity for this mutation and sporadic, non-syndromic CL/P in northern Venezuela.

PMID:
11559849
DOI:
10.1038/ng740
[Indexed for MEDLINE]
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