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Article

Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G > A variant in RNF213.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Aug 2015

Inoue Takeshi, Murakami Nobuyuki, Sakadume Satoru, Kido Yasuhiro, Kikuchi Astuo, Ichinoi Natsuko, Suzuki Kensuke, Kure Shigeo, Sakuta Ryoichi

Abstract excerpt

Moyamoya disease (MMD) is a chronic steno-occlusive arteriopathy involving the development of abnormal collateral vessels. Ring finger protein (RNF213) on the 17q25.3 locus was identified as an MMD-susceptibility gene in East Asian populations. We report a 5-year-old Japanese boy diagnosed with cerebral infarction and unilateral MMD. Magnetic resonance angiography (MRA) showed severe stenosis of the left internal...

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Source

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PMID: 26315205
DOI: 10.1111/ped.12689

Genes

MMD

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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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