Article
A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213.
American journal of medical genetics. Part A - 1 Jul 2021
Strong Alanna, O'Grady Gina, Shih Evelyn, Bishop Jonathan R, Loomes Kathleen, Diamond Tamir, Hartung Erum A, Wong William, Cuddapah Sanmati, Cahill Anne Marie, Hou Cuiping, Slater Diana, Vaccaro Courtney, Watson Deborah, Li Dong, Hakonarson Hakon
Abstract excerpt
Ring-finger protein 213 (RNF213) encodes a protein of unknown function believed to play a role in cellular metabolism and angiogenesis. Gene variants are associated with susceptibility to moyamoya disease. Here, we describe two children with moyamoya disease who also demonstrated kidney disease, elevated aminotransferases, and recurrent skin lesions found by exome sequencing to have de novo missense variants in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.