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Article

Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss-of-function variants.

Molecular genetics & genomic medicine - 1 Nov 2022

Yan Dan, Sun Yu, Xu Na, Yu Yongguo, Zhan Yongkun

Abstract excerpt

BACKGROUND: Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is a rare autosomal dominant syndrome, which is caused by the heterozygous germline loss-of-function variants in CTNNB1. METHODS: We evaluated the clinical and genetic findings of 24 previously undescribed Chinese patients affected by CTNNB1-related disorders and explored the possible ethnicity-related phenotypic variations....

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Identifiers

PMID: 36153650
DOI: 10.1002/mgg3.2067
PMCID: PMC9651608

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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