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Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss‐of‐function variants
BACKGROUND: Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is a rare autosomal dominant syndrome, which is caused by the heterozygous germline loss‐of‐function variants in CTNNB1. METHODS: We evaluated the clinical and genetic findings of 24 previously undescribed Chin...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9651608/ https://www.ncbi.nlm.nih.gov/pubmed/36153650 http://dx.doi.org/10.1002/mgg3.2067 |