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...

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Detalles Bibliográficos
Autores principales: Yan, Dan, Sun, Yu, Xu, Na, Yu, Yongguo, Zhan, Yongkun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
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

Internet

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

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