- Case Report
The First Potentially Causal Genetic Variant Documented in a Polish Woman with Multiple Cavernous Malformations of the Brain
- Elżbieta Szczygieł-Pilut,
- Daniel Pilut,
- Michal Korostynski,
- Piotr Kopiński,
- Daniel P. Potaczek and
- Ewa Wypasek
Cerebral cavernous malformations (CCMs) are relatively common in the central nervous system. They occur in two forms, sporadic and familial (FCCMs). Three genes are recognized to be associated with FCCM, including CCM1, CCM2, and CCM3, the latter als...