Ontology highlight
ABSTRACT:
SUBMITTER: Yang Y
PROVIDER: S-EPMC7207206 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Yang Yongbo Y Wang Jian J Liang Qun Q Wang Yi Y Chen Xinhua X Zhang Qingrong Q Na Shijie S Liu Yi Y Yan Ting T Hang Chunhua C Zhu Yichao Y
PeerJ 20200505
Moyamoya disease (MMD) is a progressive stenosis at the terminal portion of internal carotid artery and frequently occurs in East Asian countries. The etiology of MMD is still largely unknown. We performed a case-control design with whole-exome sequencing analysis on 31 sporadic MMD patients and 10 normal controls with matched age and gender. Patients clinically diagnosed with MMD was determined by digital subtraction angiography (DSA). Twelve predisposing mutations on seven genes associated wit ...[more]