Article
Exome sequencing of 112 trios identifies recessive genetic variants in brain arteriovenous malformations.
Journal of neurointerventional surgery - 1 Jun 2021
Zhang Mingqi, Ding Xinghuan, Zhang Qianqian, Liu Jian, Zhang Yisen, Zhang Ying, Tian Zhongbin, Li Wenqiang, Zhu Wei, Kang Huibin, Wang Zhongxiao, Wu Xinzhi, Wang Chao, Yang Xinjian, Wang Kun
Abstract excerpt
BACKGROUND: Brain arteriovenous malformation (BAVM) is a main cause of cerebral hemorrhage and hemorrhagic stroke in adolescents. Morphologically, a BAVM is an abnormal connection between cerebrovascular arteries and veins. The genetic etiology of BAVMs has not been fully elucidated. In this study, we aim to investigate potential recessive genetic variants in BAVMs by interrogation of rare compound heterozygous...
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