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Article

Early onset of moyamoya syndrome in a Down syndrome patient with the genetic variant RNF213 p.R4810K.

Brain & development - 1 Sept 2015

Chong Pin Fee, Ogata Reina, Kobayashi Hatasu, Koizumi Akio, Kira Ryutaro

Abstract excerpt

Moyamoya syndrome is a unique progressive occlusive cerebrovascular disease that predisposes affected patients to stroke. We describe the case of a 2-year-old girl presenting with early onset of moyamoya syndrome with concurrent Down syndrome. Genetic testing revealed a heterozygous missense variant of RNF213. RNF213 was recently identified as the first susceptibility gene for moyamoya disease in patients with no...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25547042
DOI: 10.1016/j.braindev.2014.12.006

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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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