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Distinct Small Vessel Disease Phenotype Linked to Monoallelic NOTCH3 Loss-of-Function Variants: Differentiation from CADASIL and Clinical Implications
Monoallelic NOTCH3 loss-of-function variants cause a subclinical small vessel disease distinct from CADASIL, with white matter changes but lower stroke risk; cardiovascular risk factors and aging exacerbate the phenotype.
