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Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome

18 Jul 2025

Abstract excerpt

CTNNB1 neurodevelopmental syndrome is a rare disorder caused by de novo heterozygous variants in the CTNNB1 gene encoding β-catenin. This study aimed to characterize genetic variants in individuals with CTNNB1 neurodevelopmental syndrome, systematically assess the spectrum of clinical phenotypes using standardized measures, and explore potential genotype-phenotype correlations. In this cross-sectional cohort...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 40684264
DOI: 10.1016/j.xhgg.2025.100483

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