Article
Moyamoya Disease and Spectrums of RNF213 Vasculopathy.
Translational stroke research - 1 Aug 2020
Bang Oh Young, Chung Jong-Won, Kim Dong Hee, Won Hong-Hee, Yeon Je Young, Ki Chang-Seok, Shin Hyung Jin, Kim Jong-Soo, Hong Seung Chyul, Kim Duk-Kyung, Koizumi Akio
Abstract excerpt
Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive stenosis of large intracranial arteries and a hazy network of basal collaterals called moyamoya vessels. A polymorphism (R4810K) in the Ring Finger Protein 213 (RNF213) gene, at chromosome 17q25.3, is the strongest genetic susceptibility factor for MMD in East Asian populations. MMD was regarded prevalent in childhood and in...
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