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Article

Familial moyamoya disease in two Turkish siblings with same polymorphism in RNF213 gene but different clinical features.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Mar 2016

Bayram Ayşe Kaçar, Yilmaz Ebru, Per Huseyin, Ito Masaki, Uchino Haruto, Doganay Selim, Houkin Kiyohiro, Unal Ekrem

Abstract excerpt

BACKGROUND: Moyamoya disease is an uncommon, progressive, and occlusive cerebrovascular disorder, predominantly affecting the terminal segment of the internal carotid arteries and its main branches. This occlusion results at the formation of a compensatory collateral arterial network (moyamoya vessels) developing at the base of the brain. The c.14576G>A variant in ring finger protein 213 (RNF213) was recently...

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PMID: 26277359
DOI: 10.1007/s00381-015-2871-7

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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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