Can Moyamoya Disease Susceptibility Gene Affect Extracranial Systemic Artery Stenosis?

doi:10.1016/j.jstrokecerebrovasdis.2019.104532

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Article

Can Moyamoya Disease Susceptibility Gene Affect Extracranial Systemic Artery Stenosis?

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Feb 2020

Nomura Shunsuke, Aihara Yasuo, Akagawa Hiroyuki, Chiba Kentaro, Yamaguchi Koji, Kawashima Akitsugu, Okada Yoshikazu, Kawamata Takakazu

Abstract excerpt

Diseases associated with the RNF213 gene include moyamoya disease, with the p.R4810K (c.14429G>A, rs112735431) homozygous variant thought to be the most pathogenic and significantly associated with severe manifestation such as early onset or cerebral infarction at onset. We report a case of a unique Japanese pedigree associated with RNF213. A 53-year-old woman with no arteriosclerotic risk factors experienced...

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PMID: 31806452
DOI: 10.1016/j.jstrokecerebrovasdis.2019.104532

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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