Article
Molecular Genetic Screening of CCM Patients: An Overview.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2020
Tournier-Lasserve Elisabeth
Abstract excerpt
Cerebral Cavernous Malformations (CCMs) are vascular lesions which can occur as a sporadic (80% of the cases) or a familial autosomal dominant disease (20%), the latter being characterized by the presence of multiple lesions. Three CCM genes have been identified in the last 10 years. More than 95% of familial cases and 60% of sporadic cases with multiple lesions harbor a germline heterozygous loss of function...
Topics
- Alleles
- Clinical Decision-Making
- Disease Management
- Family
- Genetic Association Studies
- Genetic Counseling
- Genetic Predisposition to Disease
- Genetic Testing
- Germ-Line Mutation
- Hemangioma, Cavernous, Central Nervous System
- Humans