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Coexistence of Hereditary Hemorrhagic Telangiectasia and Moyamoya Disease: A Case Report Highlighting a Potential Genetic Synergy

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Hereditary hemorrhagic telangiectasia (HHT) coexisting with moyamoya disease (MMD) is exceptionally rare. We report the first case of a 45-year-old female harboring two genetic variants implicated in vascular disease: a pathogenic mutation in ACVRL1 (c.1231C>T... ...