Review
doi: 10.1016/S1474-4422(07)70053-4.
Genetics of cavernous angiomas
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- PMID: 17303530
- DOI: 10.1016/S1474-4422(07)70053-4
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Review
Genetics of cavernous angiomas
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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