2022 (v1)
Publication
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Uploaded on: February 14, 2024
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Last name: GIANLUCA PIATELLI
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Simple Summary Neurofibromatosis type 1 and Moyamoya disease can be associated in Moyamoya syndrome (MMS), which causes cerebral arteriopathy consisting of a progressive steno-occlusion of the intracranial arteries. Here, we investigated if rare variants of RNF213, the most common genetic risk factor for Moyamoya, could act as genetic modifiers...