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A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213
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, ele...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8360119/ https://www.ncbi.nlm.nih.gov/pubmed/33960657 http://dx.doi.org/10.1002/ajmg.a.62215 |
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