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Article

Rare RNF213 variant in adolescent with moyamoya disease.

Revista de neurologia - 1 Mar 2023

Cardoso I, Pinto M, Araújo A, Vila-Real M

Abstract excerpt

INTRODUCTION: Moyamoya disease is a progressive steno-occlusive disease of the major intracranial arteries. Affected individuals are at risk for intracranial hemorrhagic or ischemic stroke, cognitive impairment, and developmental delays. Several susceptibility genes have been identified. The p.R4810K variant in the RNF213 gene has been identified in 95% of patients with familial moyamoya disease. CASE REPORT: We...

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Share to Adenosine Triphosphatases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36843178
DOI: 10.33588/rn.7605.2021392
PMCID: PMC10364028

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