Article
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.
American journal of medical genetics. Part A - 1 Jun 2017
Santoro Claudia, Di Rocco Federico, Kossorotoff Manoelle, Zerah Michel, Boddaert Nathalie, Calmon Raphael, Vidaud Dominique, Cirillo Mario, Cinalli Giuseppe, Mirone Giuseppe, Giugliano Teresa, Piluso Giulio, D'Amico Alessandra, Capra Valeria, Pavanello Marco, Cama Armando, Nobili Bruno, Lyonnet Stanislas, Perrotta Silverio
Abstract excerpt
Moyamoya syndrome (MMS) is the most common cerebral vasculopathy among children with neurofibromatosis type 1 (NF1). In this study, we clinically, radiologically, and genetically examined a cohort that was not previously described, comprising European children with NF1 and MMS. The NF1 genotyping had been registered. This study included 18 children. The mean age was 2.93 ± 3.03 years at the NF1 diagnosis and...
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