[IO1] International Session（Platform Presentation）1

[IO1-03] A novel gain-of-function variant in MYCN causing megalencephaly-polydactyly syndrome

Ishioka Risako¹, Nishio Yosuke^1,2,3,4, Kram David⁵, Fujimoto Masanori¹, Ieda Daisuke¹, Negishi Yutaka¹, Saitoh Shinji¹ (1.Department of Pediatrics and Neonatology, Nagoya City University, Graduate school of Medical Sciences, Japan, 2.Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan., 3.Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan, 4.Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan., 5.Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, USA)

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