Articles with "variants rnf213" as a keyword



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Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213

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Published in 2023 at "Cancers"

DOI: 10.3390/cancers15061916

Abstract: 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… read more here.

Keywords: rare variants; moyamoya; variants rnf213; neurofibromatosis type ... See more keywords