Archetypal Arg169Cys mutation in NOTCH3 does not drive the pathogenesis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy via a loss-of-function mechanism.
Diseases presenting "is caused by dominant mutations in the notch3 receptor that stereotypically lead to age-dependent notch3ecd deposition in the vessels" symptom
cadasil
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