CTNND1

Publications

Ghoumid J et al. Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1. Genet Med. 2017;19(9):1013-1021.  PMID: 28301459.

Kievit A et al. Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome. Eur J Hum Genet. 2018;26(2):210-219.  PMID: 29348693.

Cox LL et al. Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. Am J Hum Genet. 2018;102(6):1143-1157.  PMID: 29805042.