Article
Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM).
Journal of medical genetics - 1 Oct 2018
Wang Kun, Zhao Sen, Liu Bowen, Zhang Qianqian, Li Yaqi, Liu Jiaqi, Shen Yan, Ding Xinghuan, Lin Jiachen, Wu Yong, Yan Zihui, Chen Jia, Li Xiaoxin, Song Xiaofei, Niu Yuchen, Liu Jian, Chen Weisheng, Ming Yue, Du Renqian, Chen Cong, Long Bo, Zhang Yisen, Tong Xiangjun, Zhang Shuyang, Posey Jennifer E, Zhang Bo, Wu Zhihong, Wythe Joshua D, Liu Pengfei, Lupski James R, Yang Xinjian, Wu Nan
Abstract excerpt
BACKGROUND: Brain arteriovenous malformations (BAVM) represent a congenital anomaly of the cerebral vessels with a prevalence of 10-18/100 000. BAVM is the leading aetiology of intracranial haemorrhage in children. Our objective was to identify gene variants potentially contributing to disease and to better define the molecular aetiology underlying non-syndromic sporadic BAVM. METHODS: We performed whole-exome...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.