The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder

PURPOSE: Loss-of-function mutations of CTNNB1 have been established as the cause of neurodevelopmental disorder with spastic diplegia and visual defects. Although most patients share key phenotypes such as global developmental delay and intellectual disability, patients with CTNNB1-related neurodeve...

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Detalles Bibliográficos
Autores principales: Lee, Seungbok, Jang, Se Song, Park, Soojin, Yoon, Jihoon G., Kim, Soo Yeon, Lim, Byung Chan, Chae, Jong Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9353113/
https://www.ncbi.nlm.nih.gov/pubmed/35935366
http://dx.doi.org/10.3389/fped.2022.960450

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9353113/
https://www.ncbi.nlm.nih.gov/pubmed/35935366
http://dx.doi.org/10.3389/fped.2022.960450

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