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Article

CTNNB1-related neurodevelopmental disorder in a Chinese population: A case series.

American journal of medical genetics. Part A - 1 Jan 2022

Ho Stephanie, Tsang Mandy Ho-Yin, Fung Jasmine Lee-Fong, Huang Haibo, Chow Chun-Bong, Cheng Shirley Sze-Wing, Luk Ho-Ming, Chung Brian Hon-Yin, Lo Ivan Fai-Man

Abstract excerpt

CTNNB1-related disorder is an autosomal dominant neurodevelopmental disorder characterized by a variable degree of cognitive impairment, microcephaly, truncal hypotonia, peripheral spasticity, visual defects, and dysmorphic features. In this case series, we report the clinical and molecular findings of nine Chinese patients affected by CTNNB1-related disorders. The facial features of these affected individuals...

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Identifiers

PMID: 34558805
DOI: 10.1002/ajmg.a.62504

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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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