Tally Lerman‐Sagie

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 co...