A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in <scp><i>RNF213</i></scp>
Alanna Strong(Children's Hospital of Philadelphia), Håkon Håkonarson(Children's Hospital of Philadelphia), William Wong, Jonathan Bishop, Courtney Vaccaro(Children's Hospital of Philadelphia), Li Dong(Children's Hospital of Philadelphia), Erum A. Hartung(Children's Hospital of Philadelphia), Kathleen M. Loomes(Children's Hospital of Philadelphia), Diana J. Slater(Genomics (United Kingdom)), Tamir Diamond(Children's Hospital of Philadelphia), Deborah Watson(University of San Diego), Gina O’Grady(Starship Children's Health), Evelyn K. Shih(Children's Hospital of Philadelphia), Sanmati Cuddapah(Children's Hospital of Philadelphia), Anne Marie Cahill(Children's Hospital of Philadelphia), Cuiping Hou(Children's Hospital of Philadelphia)
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