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vealed two haplotypes carrying p.R4810K: allele A 2 , which is common among patients with MMD, and allele A 1 , which is rare among patients with MMD [6] . The patient inherited an A 1 allele for p.R4810K ( fig. 1 d). On the other hand, her elder and younger sisters inherited an A 2 allele from their mother for p.R4810K, and no arterial stenosis was identified in either the initial or annual follow-up MRI examinations. Ethical approval for this study was given by the Institutional Review Board and Ethics Committee of the Kyoto University School of Medicine, Kyoto University, Japan.

Rapid Progression of Unilateral Moyamoya Disease in a Patient with a Family History and an <b><i>RNF213</i></b> Risk Variant