Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

New Genitourinary Findings in CTNND1 Blepharocheilodontic Syndrome.

American journal of medical genetics. Part A - 1 Jul 2025

Loughman Lily, Samnakay Naeem, Lam Geoffrey C, Pantaleo Sarah-Jane, Roesley Ain, Kamien Benjamin

Abstract excerpt

Blepharocheilodontic syndrome (BCD syndrome) is an autosomal dominant condition characterized by cleft lip/palate, distinct eyelid abnormalities, and ectodermal changes affecting hair and teeth. This report presents a novel case of CTNND1-related BCD syndrome in a 3-year-old female. In addition to the typical features, including unilateral cleft lip/palate and eyelid malformations, the patient exhibited a duplex...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cleft Lip

Share to Cleft Palate

Share to Exome Sequencing

Share to Eyelids

Share to Tooth Abnormalities

Share to Urogenital Abnormalities

Source

Identifiers

PMID: 40028877
DOI: 10.1002/ajmg.a.64033

Genes

CTNND1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New Genitourinary Findings in CTNND1 Blepharocheilodontic Syndrome.PMID 40028877Read ↗

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

CTNND1-Related Disorder: New Insight on Prenatal Phenotype.Semantic proximity Read ↗

Novel truncating mutations in <i>CTNND1</i> cause a dominant craniofacial and cardiac syndromeSemantic proximity Read ↗

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.Semantic proximity Read ↗

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.Semantic proximity Read ↗

Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.Semantic proximity Read ↗

[Genetic analysis of a Chinese pedigree featuring non-simplex blepharocheilodontic syndrome].Semantic proximity Read ↗

The molecular basis of oral-facial-digital syndrome, type 1.Semantic proximity Read ↗

Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.Semantic proximity Read ↗

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

Prenatal Whole Exome Sequencing Reveals a Novel CDH1 Mutation Associated With Blepharo-Cheilo-Dontic SyndromeSemantic proximity Read ↗

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.