MedicineFemaleHumansMaleMiddle AgedAdenosine Triphosphatases
Familial Moyamoya disease associated with dual RNF213 variants (R4810K and T1727M): A case report and genetic investigation.
Ben Sang, Wenpeng Lu, Lei Feng
Published: 202610.1097/MD.0000000000047079
Abstract
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-establishe…
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