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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Main Authors: Jaewoong Lee (Author), Jaeeun Yoo (Author), Seungok Lee (Author), Dae-Hyun Jang (Author)
Format: Book
Published: Frontiers Media S.A., 2023-06-01T00:00:00Z.
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3rd Floor Main Library

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