Open access
Sep 2026
Cerebrovascular Manifestations in a Family with a Pathogenic COL4A5 Variant
Background/Objectives: Pathogenic variants in collagen type 4 α5 chain (COL4A5), responsible for X-linked Alport syndrome, are classically associated with progressive kidney disease, sensorineural hearing impairment, and ocular abnormalities. Cerebrovascular involvement is not considered part of the COL4A5-related phen...
Hagit Toledano-Alhadef, A. Fattal-Valevski, M. Hausman-Kedem et al.
· Journal of Clinical Medicine · 0 citations