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- Title
RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome.
- Authors
Romanisio, Giulia; Chelleri, Cristina; Scala, Marcello; Piccolo, Gianluca; Carlini, Barbara; Gatti, Laura; Capra, Valeria; Zara, Federico; Bersano, Anna; Pavanello, Marco; De Marco, Patrizia; Diana, Maria Cristina
- Abstract
The evidence of a novel I RNF213 i variant in a patient with Legius syndrome associated with early-onset bilateral MMS might suggest that I RNF213 i variants act as negative prognostic factors. Neurofibromatosis type 1 (NF1) is a clinically heterogeneous neurocutaneous genetic disorder that may occasionally be associated with various cerebrovascular anomalies, including moyamoya syndrome (Dlamini et al., 2019; Guey et al., 2015; Sam et al., 2015). A similar vascular involvement has been very recently reported in a patient with Legius syndrome, a rare condition characterized by café-au-lait spots and macrocephaly either with or without axillary and inguinal freckling, presenting with moyamoya syndrome (MMS) (Pabst et al., 2020).
- Subjects
MAGNETIC resonance imaging; PROGNOSIS; SYNDROMES; MAGNETIC resonance angiography
- Publication
Molecular Genetics & Genomic Medicine, 2021, Vol 9, Issue 6, p1
- ISSN
2324-9269
- Publication type
Article
- DOI
10.1002/mgg3.1669