Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.

BACKGROUND AND PURPOSE:Moyamoya angiopathy is a progressive cerebral vasculopathy. The p.R4810K substitution in RNF213 has previously been linked to moyamoya disease in Asian populations. When associated with other medical conditions, such as neurofibromatosis type 1, this vasculopathy is frequently...

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Bibliographic Details
Main Authors: Claudia Santoro, Teresa Giugliano, Markus Kraemer, Annalaura Torella, Jan Claudius Schwitalla, Mario Cirillo, Daniela Melis, Peter Berlit, Vincenzo Nigro, Silverio Perrotta, Giulio Piluso
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2018-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC6042724?pdf=render

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http://europepmc.org/articles/PMC6042724?pdf=render

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