Article
RNF213-Related Vasculopathy: Various Systemic Vascular Diseases Involving RNF213 Gene Mutations: Review.
Journal of Nippon Medical School = Nippon Ika Daigaku zasshi - 1 Jan 2024
Murai Yasuo, Matano Fumihiro, Kubota Asami, Nounaka Yohei, Ishisaka Eitaro, Shirokane Kazutaka, Koketsu Kenta, Nakae Ryuta, Tamaki Tomonori
Abstract excerpt
Moyamoya disease (MMD) is a cerebrovascular disorder that is predominantly observed in women of East Asian descent, and is characterized by progressive stenosis of the internal carotid artery, beginning in early childhood, and a distinctive network of collateral vessels known as "moyamoya vessels" in the basal ganglia. Additionally, a prevalent genetic variant found in most MMD cases is the p.R4810K polymorphism...
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