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 frequentl...

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Publicado en:PLoS One
Autores principales: Santoro, Claudia, Giugliano, Teresa, Kraemer, Markus, Torella, Annalaura, Schwitalla, Jan Claudius, Cirillo, Mario, Melis, Daniela, Berlit, Peter, Nigro, Vincenzo, Perrotta, Silverio, Piluso, Giulio
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2018
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6042724/
https://ncbi.nlm.nih.gov/pubmed/30001348
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0200446
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