CTNNB1-related neurodevelopmental disorder mimics cerebral palsy: case report
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-p...
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Frontiers Media S.A.,
2023-06-01T00:00:00Z.
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A1234.567 |
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