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Author

T. Lerman-Sagie

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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. · 0 citations

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