| Literature DB >> 11559849 |
M A Sözen1, K Suzuki, M M Tolarova, T Bustos, J E Fernández Iglesias, R A Spritz.
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.Entities:
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Year: 2001 PMID： 11559849 DOI： 10.1038/ng740
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330