CTNNB1-related neurodevelopmental disorder mimics cerebral palsy: case report.

ABSTRACT: While somatic gain-of-function mutations in the CTNNB1 gene cause diverse malignancies, germline loss-of-function mutations cause neurodevelopmental disorders or familial exudative vitreoretinopathy. In particular, CTNNB1-related neurodevelopmental disorders have various phenotypes, and a genotype-phenotype relationship has not been established. We report two patients with CTNNB1-related neurodevelopmental disorder whose clinical features were similar to those of cerebral palsy, hindering diagnosis.

SUBMITTER: Lee J 

PROVIDER: S-EPMC10321129 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature