Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management

[摘要]：Cerebral cavernous (or capillary-venous) malformations (CCM) have a prevalence of about 0.1-0.5% in the general population. Genes mutated in CCM encode proteins that modulate junction formation between vascular endothelial cells. Mutations lead to the development of abnormal vascular structures. In this article, we review the clinical features, molecular and genetic basis of the disease, and management. European Journal of Human Genetics (2012) 20, 134-140; doi:10.1038/ejhg.2011.155; published online 10 August 2011

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