Mar 16, 2017 · Our data assert BCD syndrome as a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1 and widen the phenotypic spectrum of E-cadherin anomalies.

Jan 18, 2018 · We identified heterozygous variants in two genes of the cadherin–catenin complex, CDH1, encoding E-cadherin, and CTNND1, encoding p120 catenin delta1 in 15 of 17 BCDS …

BCD syndrome is caused by mutations in the CDH1 or CTNND1 gene. These genes provide instructions for making proteins called epithelial cadherin (E-cadherin) and p120-catenin, …

Purpose: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. The …

BCD syndrome-2 (BCDS2; 617681) is caused by mutation in the CTNND1 gene (601045) on chromosome 11q12. The blepharocheilodontic syndrome is a rare autosomal dominant …

Blepharocheilodontic syndrome 2 is caused by mutations in the CTNND1 gene (16q22.1). Other conditions with distichiasis include Blatt distichiasis (126300) and lymphedema-distichiasis …

Jun 15, 2023 · Mutation in the genes named CDH1 or CTNND1 leads to this syndrome. Instructions for making certain proteins are provided by these genes. These proteins are …

Apr 20, 2017 · Like BCD, HDGC is caused by germline CDH1 mutations. In HDGC, carriers are at increased risk of diffuse gastric cancer (DGC) and invasive lobular carcinoma of the breast …

We identified heterozygous variants in two genes of the cadherin-catenin complex, CDH1, encoding E-cadherin, and CTNND1, encoding p120 catenin delta1 in 15 of 17 BCDS index …

Mar 17, 2023 · Malformative syndromes due to CDH1 pathogenic variants (PV) include non-syndromic cleft lip or palate (CLP) and the blepharocheilodontic syndrome (BCDS). CDH1 was …