Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of <i>RNF213</i>

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of <i>RNF213</i>

Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by mutations in <i>NF1</i> gene, coding for neurofibromin 1. NF1 can be associated with Moyamoya disease (MMD), and this association, typical of paediatric patients, is referred to as Moyamoya syndrome (MMS). MMD is a cer...

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Bibliographic Details
Main Authors: Marzia Ognibene, Marcello Scala, Michele Iacomino, Irene Schiavetti, Francesca Madia, Monica Traverso, Sara Guerrisi, Marco Di Duca, Francesco Caroli, Simona Baldassari, Barbara Tappino, Ferruccio Romano, Paolo Uva, Diego Vozzi, Cristina Chelleri, Gianluca Piatelli, Maria Cristina Diana, Federico Zara, Valeria Capra, Marco Pavanello, Patrizia De Marco
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Cancers
Subjects:
neurofibromatosis type 1
Moyamoya
next-generation sequencing (NGS)
<i>NF1</i>
<i>RNF213</i>
Online Access:https://www.mdpi.com/2072-6694/15/6/1916

Internet

https://www.mdpi.com/2072-6694/15/6/1916

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