Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view

Cerebral cavernous malformations (CCMs) are common vascular anomaly diseases in the central nervous system associated with seizures, cerebral microbleeds, or asymptomatic mostly. CCMs can be classified as sporadic or familial, with familial cerebral cavernous malformations (fCCMs) being the autosoma...

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Detalles Bibliográficos
Autores principales: Chen, Yanming, Dong, Xuchen, Wang, Ye, Lv, Haijun, Chen, Nan, Wang, Zhongyong, Chen, Si, Chen, Ping, Xiao, Sheng, Zhao, Jizong, Dong, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10192864/
https://www.ncbi.nlm.nih.gov/pubmed/37214396
http://dx.doi.org/10.3389/fnins.2023.1184333

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10192864/
https://www.ncbi.nlm.nih.gov/pubmed/37214396
http://dx.doi.org/10.3389/fnins.2023.1184333

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