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Article

CTNND1-Related Disorder: New Insight on Prenatal Phenotype.

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

Conti B, Di Napoli C, Hafdaoui S, Nicotra V, Cesaretti C, Runza L, Accurti V, Boito S, Iascone M, Marchetti D, Silipigni R, Finelli P, Natacci F

Abstract excerpt

CTNND1 is a gene located in 11q12.1, encoding for p120 catenin, a protein involved in maintaining adherent junctions, regulating the epithelial-mesenchymal transition, and transcriptional signaling of different cellular pathways. Pathogenic variants in CTNND1 are classically associated with isolated cleft palate and Blefaro-cheilo-dontic syndrome, an autosomal dominant condition characterized by abnormalities of...

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Catenins
Cleft Lip
Cleft Palate
Delta Catenin
Eyelids

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Association Studies

Prenatal Diagnosis

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Identifiers

PMID: 39487033
DOI: 10.1002/ajmg.a.63921

Genes

CTNND1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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