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1. RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome.

Author

Romanisio G, Chelleri C, Scala M, Piccolo G, Carlini B, Gatti L, Capra V, Zara F, Bersano A, Pavanello M, De Marco P, and Diana MC

Subjects
Cafe-au-Lait Spots pathology, Female, Frameshift Mutation, Humans, Moyamoya Disease pathology, Syndrome, Young Adult, Adenosine Triphosphatases genetics, Cafe-au-Lait Spots genetics, Moyamoya Disease genetics, Ubiquitin-Protein Ligases genetics
Published
2021
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