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

Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by mutations in 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 cerebral arteriopathy char...

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Veröffentlicht in:	Cancers 2023-03, Vol.15 (6), p.1916
Hauptverfasser:	Ognibene, Marzia, Scala, Marcello, Iacomino, Michele, Schiavetti, Irene, Madia, Francesca, Traverso, Monica, Guerrisi, Sara, Di Duca, Marco, Caroli, Francesco, Baldassari, Simona, Tappino, Barbara, Romano, Ferruccio, Uva, Paolo, Vozzi, Diego, Chelleri, Cristina, Piatelli, Gianluca, Diana, Maria Cristina, Zara, Federico, Capra, Valeria, Pavanello, Marco, De Marco, Patrizia
Format:	Artikel
Sprache:	eng
Schlagworte:	Arteries Cell growth Cell proliferation Cerebral blood flow Coding Disease DNA sequencing Genes Genetic disorders Genetic factors Growth factors Health risk assessment Hemorrhage Ischemia Medical imaging Minority & ethnic groups Moyamoya disease Mutation Nervous system Neurofibromatosis Neurofibromin 1 Neurological disorders Next-generation sequencing Pathogenesis Patients Pediatrics Phenotypes Recklinghausen's disease Risk factors Signal transduction Smooth muscle Stenosis Stroke Tumors Vascular diseases Veins & arteries White people
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