Article
Association between RNF213 c.14576G>A Variant (rs112735431) and Peripheral Pulmonary Artery Stenosis in Moyamoya Disease.
Cerebrovascular diseases (Basel, Switzerland) - 1 Jan 2022
Ozaki Dan, Endo Hidenori, Tashiro Ryosuke, Sugimura Koichiro, Tatebe Shunsuke, Yasuda Satoshi, Tomata Yasutake, Endo Toshiki, Tominaga Keita, Niizuma Kuniyasu, Fujimura Miki, Tominaga Teiji
Abstract excerpt
BACKGROUND: Moyamoya disease (MMD) and peripheral pulmonary artery stenosis (PPAS) are relatively rare and demonstrate steno-occlusive vascular lesions in different organs. Genetic studies identified RNF213 polymorphism c.14576G>A (rs112735431) as a susceptibility variant for East Asian MMD. RNF213 polymorphism c.14576G>A is further associated with various vascular lesions of other organs. In this study, we aimed...
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