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Review
. 2007 Mar;6(3):237-44.
doi: 10.1016/S1474-4422(07)70053-4.

Genetics of cavernous angiomas

Pierre Labauge  1 , Christian Denier, Francoise Bergametti, Elisabeth Tournier-Lasserve
Affiliations
Review

Genetics of cavernous angiomas

Pierre Labauge et al. Lancet Neurol. 2007 Mar.

Abstract

Cerebral cavernous malformations (CCM) are vascular malformations that can occur as a sporadic or a familial autosomal dominant disorder. Clinical and cerebral MRI data on large series of patients with a genetic form of the disease are now available. In addition, three CCM genes have been identified: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. These recent developments in clinical and molecular genetics have given us useful information about clinical care and genetic counselling and have broadened our understanding of the mechanisms of this disorder.

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