Case report
Open access
Sep 2026
Pediatric Familial Cerebral Cavernous Malformation Associated With a Novel KRIT1 Initiation-Region Frameshift Variant.
BACKGROUND Familial cerebral cavernous malformation (CCM) is an autosomal dominant vascular disorder with age-dependent penetrance and marked intrafamilial variability. KRIT1 loss-of-function variants are the most common genetic cause, but pediatric genotype-phenotype correlations remain limited. METHODS Clinical, ra...
Özlem Yayıcı Köken, M. S. Yanartaş, H. Aygün et al.
· Molecular Genetics & Genomic... · 0 citations