期刊
NATURE GENETICS
卷 29, 期 2, 页码 141-142出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng740
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资金
- NIDCR NIH HHS [DE13571] Funding Source: Medline
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.
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