Case report
Open access
Sep 2026
Pediatric Familial Cerebral Cavernous Malformation Associated With a Novel KRIT1 Initiation‐Region Frameshift Variant
Familial cerebral cavernous malformation is an autosomal dominant vascular disorder with age‐dependent penetrance and marked intrafamilial variability and genotype–phenotype correlations remain limited.
Özlem Yayıcı Köken, M. S. Yanartaş, H. Aygün et al.
· Molecular Genetics & Genomic... · 0 citations