Article
Review of familial cerebral cavernous malformations and report of seven additional families.
American journal of medical genetics. Part A - 1 Feb 2017
de Vos Ivo J H M, Vreeburg Maaike, Koek Ger H, van Steensel Maurice A M
Abstract excerpt
Cerebral cavernous malformations are vascular anomalies of the central nervous system characterized by clusters of enlarged, leaky capillaries. They are caused by loss-of-function mutations in KRIT1, CCM2, or PDCD10. The proteins encoded by these genes are involved in four partially interconnected signaling pathways that control angiogenesis and endothelial permeability. Cerebral cavernous malformations can occur...
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