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A Noonan-like pediatric patient with a de novo CBL pathogenic variant and an RNF213 polymorphism p.R4810K presenting with cardiopulmonary arrest due to left main coronary artery ostial atresia.
Chida-Nagai A, Tonoki H, Makita N, Ishiyama H, Ihara M, Maruo Y, Tsujioka T, Sasaki D, Izumi G, Yamazawa H, Kato N, Ito M, Fujimura M, Sasaki O, Takeda A. Chida-Nagai A, et al. Among authors: izumi g. Am J Med Genet A. 2023 Dec;191(12):2837-2842. doi: 10.1002/ajmg.a.63370. Epub 2023 Aug 9. Am J Med Genet A. 2023. PMID: 37554039
103 results