Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia

@article{Suzuki2000MutationsOP,
  title={Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia},
  author={Koji A. O. Suzuki and Diane Hu and T. Yaneth Bustos and Jo{\"e}l Zlotogora and Ant{\^o}nio Richieri-Costa and J A Helms and Richard A. Spritz},
  journal={Nature Genetics},
  year={2000},
  volume={25},
  pages={427-430}
}

• Koji A. O. Suzuki, Diane Hu, +4 authors Richard A. Spritz
• Published 2000 in Nature Genetics
• DOI:10.1038/78119

Cleft lip, with or without cleft palate (CL/P), is one of the most common birth defects, occurring in 0.4 to 2.0 per 1,000 infants born alive. Approximately 70% of CL/P cases are non-syndromic (MIM 119530), but CL/P also occurs in many single-gene syndromes, each affecting a protein critical for orofacial development. Here we describe positional cloning of the gene responsible for an autosomal recessive CL/P-ectodermal dysplasia (ED) syndrome (CLPED1; previously ED4; ref. 2), which we identify… CONTINUE READING

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