CTNNB1-related neurodevelopmental disorder mimics cerebral palsy: case report.
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ABSTRACT:
SUBMITTER: Lee J
PROVIDER: S-EPMC10321129 | biostudies-literature | 2023
REPOSITORIES: biostudies-literature
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<i>CTNNB1</i>-related neurodevelopmental disorder mimics cerebral palsy: case report.
Lee Jaewoong J Yoo Jaeeun J Lee Seungok S Jang Dae-Hyun DH
Frontiers in pediatrics 20230616
While somatic gain-of-function mutations in the <i>CTNNB1</i> gene cause diverse malignancies, germline loss-of-function mutations cause neurodevelopmental disorders or familial exudative vitreoretinopathy. In particular, <i>CTNNB1</i>-related neurodevelopmental disorders have various phenotypes, and a genotype-phenotype relationship has not been established. We report two patients with <i>CTNNB1</i>-related neurodevelopmental disorder whose clinical features were similar to those of cerebral pa ...[more]
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