Article
The Association of Heterozygous p.R4810K of RNF213 and Long-Term Unfavorable Outcomes after Encephaloduroarteriosynangiosis in Chinese Pediatric Patients with Moyamoya Disease.
Human mutation - 1 Jan 2024
Guo Qingbao, Hao Fangbin, Wang Qian-Nan, Li Jingjie, Liu Shitong, Zou Zhengxing, Liu Simeng, Wang Xiaopeng, Yu Dan, Gao Gan, Zhang Qian, Pei Songtao, Feng Jie, Yang Rimiao, Wang Minjie, Fu Heguan, Han Cong, Bao Xiangyang, Duan Lian
Abstract excerpt
Background: Previous studies have established that heterozygous mutation for the p.R4810K variant can influence the severity of the clinical phenotype in patients with moyamoya disease (MMD) at disease onset. However, the relationship between the p.R4810K variant and the clinical phenotype of long-term unfavorable outcomes in Chinese pediatric patients remains unclear. Objectives: The primary aim of this study...
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