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={K. Suzuki and D. Hu and T. Bustos and J. Zlotogora and A. Richieri‐Costa and J. Helms and R. Spritz},
  journal={Nature Genetics},
  year={2000},
  volume={25},
  pages={427-430}
}
  • K. Suzuki, D. Hu, +4 authors R. Spritz
  • Published 2000
  • Biology, Medicine
  • Nature Genetics
  • 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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    References

    SHOWING 1-10 OF 35 REFERENCES
    Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families.
    • 108
    The poliovirus receptor protein is produced both as membrane‐bound and secreted forms.
    • 296