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- W4381664811 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." @default.
- W4381664811 created "2023-06-23" @default.
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- W4381664811 date "2023-06-16" @default.
- W4381664811 modified "2023-10-14" @default.
- W4381664811 title "CTNNB1-related neurodevelopmental disorder mimics cerebral palsy: case report" @default.
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- W4381664811 doi "https://doi.org/10.3389/fped.2023.1201080" @default.
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