[HTML][HTML] Clinical spectrum and pleiotropic nature of CDH1 germline mutations

J Figueiredo, S Melo, P Carneiro, AM Moreira… - Journal of Medical …, 2019 - jmg.bmj.com
CDH1 encodes E-cadherin, a key protein in adherens junctions. Given that E-cadherin is
involved in major cellular processes such as embryogenesis and maintenance of tissue …

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

J Ghoumid, M Stichelbout, AS Jourdain, F Frenois… - Genetics in …, 2017 - nature.com
Purpose: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition
characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. The …

[图书][B] Lexikon der Syndrome und Fehlbildungen

R Witkowski, O Prokop, E Ullrich, R Witkowski… - 1999 - Springer
Lexikon der Syndrome und Fehlbildungen | SpringerLink We’re sorry, something doesn't seem
to be working properly. Please try refreshing the page. If that doesn't work, please contact …

Periocular manifestations of blepharocheilodontic syndrome and their management: case series and literature review

AS Sidhu, TG Hardy, RB Nugent, RP Teixeira… - Orbit, 2024 - Taylor & Francis
Purpose Blepharocheilodontic (BCD) syndrome is a rare condition with eyelid ectropion,
euryblepharon, lagophthalmos, congenital cleft lip/palate, and oligodontia. BCD syndrome is …

CTNND1‐Related Disorder: New Insight on Prenatal Phenotype

B Conti, C Di Napoli, S Hafdaoui… - American Journal of …, 2024 - Wiley Online Library
ABSTRACT CTNND1 is a gene located in 11q12. 1, encoding for p120 catenin, a protein
involved in maintaining adherent junctions, regulating the epithelial–mesenchymal …

Blepharo‐cheilo‐dontic (BCD) syndrome: Expanding the phenotype, case report and review of literature

FK Ababneh, A Al‐Swaid, A Elhag… - American Journal of …, 2014 - Wiley Online Library
The combination of lagophthalmia, euryblepharon, ectropion of lower eyelids, distichiasis,
bilateral cleft lip and palate, and oligodontia comprises the blepharo‐cheilo‐dontic (BCD) …

CDH1‐related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk

S LeBlanc, D Naveen, E Haan, C Barnett… - American Journal of …, 2020 - Wiley Online Library
We report the first case of diffuse gastric cancer in an individual with familial
blepharocheilodontic syndrome (BCD) due to a germline CDH1 likely pathogenic variant. To …

Management of eyelid anomalies associated with Blepharo-cheilo-dontic syndrome

MT Yen, LM Lucci, RL Anderson - American journal of ophthalmology, 2001 - Elsevier
PURPOSE: To describe the previously unreported management of the eyelid anomalies
associated with blepharocheilo-dontic syndrome. Blepharo-cheilo-dontic syndrome is a …

[图书][B] An illustrated dictionary of dermatologic syndromes

SB Mallory - 2019 - taylorfrancis.com
Written by an internationally renowned researcher and teacher, this book provides a
compendium of syndromes and dermatologic conditions. Completely revised and updated …

Blepharocheilodontic (BCD) syndrome: expanding the phenotype?

VLGS Lopes, ML Guion‐Almeida… - American Journal of …, 2003 - Wiley Online Library
We describe affected individuals in three generations of a family and another sporadic case,
all Brazilian patients, with a combination of signs that diagnose the BCD syndrome. In …