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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Detalles Bibliográficos
Autores principales: Lee, Jaewoong, Yoo, Jaeeun, Lee, Seungok, Jang, Dae-Hyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10321129/
https://www.ncbi.nlm.nih.gov/pubmed/37416820
http://dx.doi.org/10.3389/fped.2023.1201080

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10321129/
https://www.ncbi.nlm.nih.gov/pubmed/37416820
http://dx.doi.org/10.3389/fped.2023.1201080

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