NPJ genomic medicine
Identification and validation of CARS1 p.E712V and NF1 p.Q2002X in sporadic Moyamoya disease across 30 trio pedigrees.
Yue Wang, Zhengxing Zou, Gan Chen, Qian Zhang, Yunzhu Li, Zhengshan Zhang, Xiaonan Tang, Simeng Liu, Tao Zhuang, Dan Yu, Lian Duan, Wanyang Liu
Published: 202610.1038/s41525-025-00539-8
Abstract
Moyamoya disease (MMD) is a progressive cerebrovascular disorder with intracranial arterial stenosis and collateralization. Over 70% of sporadic cases lack known genetic drivers; RNF213 variants explain only 23% of Chinese cases, highlighting unmet d…
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