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

Abstract

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… (More)

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Cite this paper

@article{Avila2006PVRL1VC, title={PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations.}, author={Joseph R Avila and Peter A. Jezewski and Alexandre R Vieira and Ieda M Orioli and Eduardo Enrique Castilla and Kaare Christensen and Sandra E. Daack-Hirsch and Paul A Romitti and Jeffrey C. Murray}, journal={American journal of medical genetics. Part A}, year={2006}, volume={140 23}, pages={2562-70} }