Ontology highlight
ABSTRACT:
SUBMITTER: Han G
PROVIDER: S-EPMC7813800 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Han Guoqing G Ma Li L Qiao Huanhuan H Han Lin L Wu Qiaoli Q Li Qingguo Q
Frontiers in neuroscience 20210105
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 <i>KRIT1</i>, <i>CCM2</i>, and <i>PDCD10</i> genes cause the development of FCCM. Approximately 476 mutations of three CCM-related genes have been reported, most of which were case reports, and lack of data in stable inheritance. In addition, only a small number of ...[more]