Home > A. Molecular pathology > PVRL1
PVRL1
MIM.600644
Wednesday 15 December 2004
Cell-cell adhesion molecule/herpesvirus receptor
Pathology
germline mutations in PVRL1 gene in Margarita Island type of ectodermal dysplasia with cleft lip/palate (MIM.225060)
- nonsyndromic, sporadic cleft lip with or without cleft palate in Margarita Island in northern Venezuela. (CLPED1 patients - Margarita Island type of ectodermal dysplasia with cleft lip/palate)
germline mutations in PVRL1 gene in Zlotogora-Ogur syndrome, a cleft lip/palate-ectodermal dysplasia syndrome (MIM.225000)
