The recurrent WASF1 nonsense variant identified in two unaffected Chinese families with neurodevelopmental disorder: case report and review of the literatures

BACKGROUND: Neurodevelopmental disorder with absent language and variable seizures (NEDALVS, # 618707) are characterized by delayed speech and motor development, ocular abnormalities, and seizures. NEDAVLS is an autosomal dominant disorder caused by de novo mutations in the wasp protein family membe...

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Detalles Bibliográficos
Autores principales: Tang, Xiang, Liu, Guoqing, Lin, Li, Xiao, Nong, Chen, Yuxia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10464119/
https://www.ncbi.nlm.nih.gov/pubmed/37641121
http://dx.doi.org/10.1186/s12920-023-01630-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10464119/
https://www.ncbi.nlm.nih.gov/pubmed/37641121
http://dx.doi.org/10.1186/s12920-023-01630-8

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