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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| 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 |