Familial Moyamoya disease associated with dual RNF213 variants (R4810K and T1727M): A case report and genetic investigation.

Abstract excerpt

BACKGROUND: Moyamoya disease (MMD) is a progressive cerebrovascular disorder characterized by stenosis or occlusion of the distal internal carotid arteries, frequently observed in East Asian populations. The RNF213 R4810K variant is a well-established susceptibility factor for MMD; however, the pathogenic significance of other rare variants, such as T1727M, remains largely undefined. The co-occurrence and...

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