Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management.
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ABSTRACT:
SUBMITTER: Haasdijk RA
PROVIDER: S-EPMC3260921 | biostudies-literature | 2012 Feb
REPOSITORIES: biostudies-literature
Publications
Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management.
Haasdijk Remco A RA Cheng Caroline C Maat-Kievit Anneke J AJ Duckers Henricus J HJ
European journal of human genetics : EJHG 20110810 2
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. ...[more]
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