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

Abstract 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 fami...

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Principais autores:	Xiang Tang, Guoqing Liu, Li Lin, Nong Xiao, Yuxia Chen
Formato:	Artigo
Idioma:	Inglês
Publicado:	BMC 2023-08-01
Series:	BMC Medical Genomics
Assuntos:	WASF1 gene Developmental delay Absent language Whole-exome sequencing Case report
Acceso en liña:	https://doi.org/10.1186/s12920-023-01630-8
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