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  • Title: Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela.
    Author: Sözen MA, Suzuki K, Tolarova MM, Bustos T, Fernández Iglesias JE, Spritz RA.
    Journal: Nat Genet; 2001 Oct; 29(2):141-2. PubMed ID: 11559849.
    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.
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