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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...
Autores principales: | Chen, Yanming, Dong, Xuchen, Wang, Ye, Lv, Haijun, Chen, Nan, Wang, Zhongyong, Chen, Si, Chen, Ping, Xiao, Sheng, Zhao, Jizong, Dong, Jun |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
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 |
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