Article

Targeted Exonic Sequencing Identifies Novel Causes of Disease in a Cerebral Small Vessel Disease Cohort

2022-02-25

Abstract excerpt

Cerebral small vessel diseases (CSVDs) are a set of conditions that affect the small blood vessels in the brain and can cause severe neurological pathologies such as stroke and vascular dementia. The most common monogenic CSVD is cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) which is caused by mutations in NOTCH3. However, only 15-20% of CADASIL cases referred...

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Literature Corpus work: 62c6042a-164b-5925-b60c-f17b2052f19c
DOI: 10.21203/rs.3.rs-1333758/v1

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