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Article

First Report: Rare RNF213 Variant Associated with Familial Moyamoya Disease in an African American Family.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Dec 2021

Sunmonu N Abimbola, Ambati Naveen Kumar, Thomas Matthew J, Ulep Robin D, Worrall Bradford

Abstract excerpt

OBJECTIVE: To investigate potential genetic susceptibility for moyamoya disease (MMD) in an African American family. MATERIALS AND METHODS: Neurovascular imaging and analyses of MMD susceptibility genes RNF213 and/or ACTA2 in a young proband with MMD and two first-degree relatives. RESULTS: The proband presented with pseudobulbar affect and chorea, then had a right hemispheric ischaemic stroke and rapidly fatal...

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Identifiers

PMID: 34666234
DOI: 10.1016/j.jstrokecerebrovasdis.2021.106123

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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