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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...
Autores principales: | Tang, Xiang, Liu, Guoqing, Lin, Li, Xiao, Nong, Chen, Yuxia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
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 |
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