Genetics of cavernous angiomas

  • Labauge P
  • Denier C
  • Bergametti F
 et al. 
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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. © 2007 Elsevier Ltd. All rights reserved.

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Authors

  • Pierre Labauge

  • Christian Denier

  • Francoise Bergametti

  • Elisabeth Tournier-Lasserve

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