Blepharocheilodontic Syndrome Latest Advances

Prenatal diagnosis of Blepharo-Cheilo-Dontic syndrome: a case report.

Journal: Archives of gynecology and obstetrics

Published: September 08, 2025

Genetic analysis of a Chinese pedigree featuring non-simplex blepharocheilodontic syndrome

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: December 30, 2022

Confirmation of risk of cancer in blepharocheilodontic syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 11, 2020

CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk.

Journal: American journal of medical genetics. Part A

Published: February 09, 2020

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.

Journal: Human molecular genetics

Published: January 18, 2020

Clinical spectrum and pleiotropic nature of CDH1 germline mutations.

Journal: Journal of medical genetics

Published: October 16, 2018

West Nile Neuroinvasive Disease Presenting as Elsberg Syndrome.

Journal: The neurologist

Published: September 01, 2018

Clinical, epidemiological and etiological studies of adult aseptic meningitis: Report of 11 cases with varicella zoster virus meningitis.

Journal: Rinsho shinkeigaku = Clinical neurology

Published: August 15, 2017

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Journal: European journal of human genetics : EJHG

Published: April 11, 2017

Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 30, 2016

Blepharocheilodontic (BCD) syndrome: New insights on craniofacial and dental features.

Journal: American journal of medical genetics. Part A

Published: August 19, 2016

Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of literature.

Journal: American journal of medical genetics. Part A

Published: July 16, 2013