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Whole Exome Sequencing of Suspected Monogenic Cerebral Small Vessel Disease Patients reveals Novel Gene Associations
2026-02-16
genetic and genomic medicine
Title + abstract only
View on medRxiv
Show abstract
Cerebral small vessel diseases (CSVDs) are a group of disorders affecting the small arteries, veins, and capillaries supplying the white matter and deep grey matter structures. They are the most common form of cerebrovascular disease, accounting for almost half of vascular dementia cases worldwide and approximately 20% of stroke incidence. Whilst genetic testing is a routine diagnostic tool for monogenic CSVDs, less than 20% of patients have a causal variant in known CSVD genes. We performed wh...
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