CDH1

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.

Figueiredo J et al. Clinical spectrum and pleiotropic nature of CDH1 germline mutations. J Med Genet. 2019;56(4):199-208.  PMID: 30661051.

Benusiglio PR. CDH1 germline mutations: different syndromes, same management? Genet Med. 2017;19(9):965-966.  PMID: 28425982.

Brito LA et al. Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate. Hum Mutat. 2015;36(11):1029-33.  PMID: 26123647.