The recurrent WASF1 nonsense variant identified in two unaffected Chinese families with neurodevelop...
The recurrent WASF1 nonsense variant identified in two unaffected Chinese families with neurodevelopmental disorder: case report and review of the literatures
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Author / Creator
Tang, Xiang , Liu, Guoqing , Lin, Li , Xiao, Nong and Chen, Yuxia
Publisher
London: BioMed Central Ltd
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Language
English
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Publisher
London: BioMed Central Ltd
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Contents
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 member 1 (WASF1) gene. This case demonstrates the effective role of...
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Full title
The recurrent WASF1 nonsense variant identified in two unaffected Chinese families with neurodevelopmental disorder: case report and review of the literatures
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TN_cdi_doaj_primary_oai_doaj_org_article_000bdbb06b8048f38d00c8284c7ffdc4
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_000bdbb06b8048f38d00c8284c7ffdc4
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ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/s12920-023-01630-8
