A Novel CCM2 Missense Variant Caused Cerebral Cavernous Malformations in a Chinese Family

Cerebral cavernous malformations (CCMs) are common vascular malformations in the central nervous system. Familial CCMs (FCCMs) are autosomal dominant inherited disease with incomplete penetrance and variable symptoms. Mutations in the KRIT1, CCM2, and PDCD10 genes cause the development of FCCM. Appr...

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Detalles Bibliográficos
Autores principales: Han, Guoqing, Ma, Li, Qiao, Huanhuan, Han, Lin, Wu, Qiaoli, Li, Qingguo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7813800/
https://www.ncbi.nlm.nih.gov/pubmed/33469417
http://dx.doi.org/10.3389/fnins.2020.604350

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7813800/
https://www.ncbi.nlm.nih.gov/pubmed/33469417
http://dx.doi.org/10.3389/fnins.2020.604350

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