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Article

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report.

BMC neurology - 12 Mar 2016

Winczewska-Wiktor Anna, Badura-Stronka Magdalena, Monies-Nowicka Anna, Nowicki Michal Maciej, Steinborn Barbara, Latos-Bieleńska Anna, Monies Dorota

Abstract excerpt

BACKGROUND: In addition to its role in cell adhesion and gene expression in the canonical Wingless/integrated Wnt signaling pathway, β-catenin also regulates genes that underlie the transmission of nerve impulses. Mutations of CTNNB1 (β-catenin) have recently been described in patients with a wide range of neurodevelopmental disorders (intellectual disability, microcephaly and other syndromic features). We for...

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Identifiers

PMID: 26968164
DOI: 10.1186/s12883-016-0554-y
PMCID: PMC4788907

Genes

CTNNB1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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