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Rare variants in ANO1 , encoding a calcium-activated chloride channel, predispose to moyamoya disease

24 May 2023

Abstract excerpt

Moyamoya disease, a cerebrovascular disease leading to strokes in children and young adults, is characterized by progressive occlusion of the distal internal carotid arteries and the formation of collateral vessels. Altered genes play a prominent role in the aetiology of moyamoya disease, but a causative gene is not identified in the majority of cases. Exome sequencing data from 151 individuals from 84 unsolved...

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PMID: 37253099
DOI: 10.1093/brain/awad172

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