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Eur J Hum Genet. 2012 Feb;20(2):134-40. doi: 10.1038/ejhg.2011.155. Epub 2011 Aug 10.

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

Author information

1
Molecular Cardiology Laboratory, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands.

Abstract

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.

PMID:
21829231
PMCID:
PMC3260921
DOI:
10.1038/ejhg.2011.155
[Indexed for MEDLINE]
Free PMC Article

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