Article

TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients

2022-06-15

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and retinal vasculopathy and cerebral leukodystrophy (RVCL) are very rare monogenic disorders and the most common forms of early-onset cerebral small vessel disease. These diseases share clinical and, to a different extent, neuroradiological and neuropathological features. Recently, a growing body of evidence repor...

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Literature Corpus work: 4daae2f2-25b0-56a9-831a-f22d3466a1c9
DOI: 10.21203/rs.3.rs-1702915/v1

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