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Article

Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.

Clinical genetics - 1 May 2024

Sudnawa Khemika K, Garber Alison, Cohen Ryan, Calamia Sean, Kanner Cara H, Montes Jacqueline, Bain Jennifer M, Fee Robert J, Chung Wendy K

Abstract excerpt

Pathogenic heterozygous loss of function variants in CTNNB1 are associated with CTNNB1 neurodevelopmental disorder. We report the clinical phenotype of individuals with CTNNB1 neurodevelopmental disorder using both caregiver-reported data (medical history, adaptive function, quality of life, and behavior issues) and in-person clinical assessments (neurological, motor, and cognitive function) in 32 individuals...

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Identifiers

PMID: 38247296
DOI: 10.1111/cge.14487

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