ArticleNeurology. Genetics2026
Early Severe Moyamoya Disease Due to a Monoallelic
Article in Neurology. Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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11 authors.
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Abstract
Moyamoya disease (MMD) is an arteriopathy causing pediatric ischemic stroke and is characterized by progressive stenosis of the intracranial internal carotid arteries. Although genetic risk factors have been identified, the pathogenesis of MMD remains incompletely understood, and significant gaps persist in linking genetic variation to disease mechanisms and outcomes. We describe ex-30 week monozygotic twins presenting with recurrent ischemic events beginning in infancy found to have bilateral terminal internal carotid artery stenosis consistent with MMD. Two rounds of clinical genetic testing were performed, revealing a novel de novo missense variant in
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