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Article

PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations.

American journal of medical genetics. Part A - 1 Dec 2006

Avila Joseph R, Jezewski Peter A, Vieira Alexandre R, Orioli Iêda M, Castilla Eduardo E, Christensen Kaare, Daack-Hirsch Sandra, Romitti Paul A, Murray Jeffrey C

Abstract excerpt

Poliovirus Receptor Like-1 (PVRL1) is a member of the immunoglobulin super family that acts in the initiation and maintenance of epithelial adherens junctions and is mutated in the cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1, OMIM #225000). In addition, a common non-sense mutation in PVRL1 was discovered more often among non-syndromic sporadic clefting cases in Northern Venezuela in a previous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17089422
DOI: 10.1002/ajmg.a.31367
PMCID: PMC1885468

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations.PMID 17089422Read ↗

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