Article
Review of familial cerebral cavernous malformations and report of seven additional families.
American journal of medical genetics. Part A - 1 Feb 2017
de Vos Ivo J H M, Vreeburg Maaike, Koek Ger H, van Steensel Maurice A M
Abstract excerpt
Cerebral cavernous malformations are vascular anomalies of the central nervous system characterized by clusters of enlarged, leaky capillaries. They are caused by loss-of-function mutations in KRIT1, CCM2, or PDCD10. The proteins encoded by these genes are involved in four partially interconnecte...
Topics
- Biopsy
- Carrier Proteins
- DNA Mutational Analysis
- Female
- Genetic Association Studies
- Genetic Testing
- Genotype
- Hemangioma, Cavernous, Central Nervous System
- Humans
- KRIT1 Protein
- Magnetic Resonance Imaging
- Male
- Microtubule-Associated Proteins
- Pedigree
- Phenotype
- Proto-Oncogene Proteins