Open access
Sep 2026
Loss-Of-Function CCM Gene Variants in Japanese Patients With Cerebral Cavernous Malformations.
Hereditary cerebral cavernous malformations (CCMs) are characterized by lesion multiplicity and the formation of de novo lesions, in contrast to sporadic forms. We performed sequencing analyses covering the known autosomal dominant loci CCM1/KRIT1, CCM2/CCM2 (Malcavernin), and CCM3/PDCD10 in 11 patients from eight fami...
Takahiro Hori, Satoshi Tsutumi, Kazutoshi Hashimoto et al.
· Clinical Genetics · 0 citations