[E2] English Session 2
優秀English Session賞1

[E-011] MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome

Kohji Kato^1,2, Fuyuki Miya^3,4, Nanako Hamada⁵, Yutaka Negishi¹, Yoko Narumi-Kishimoto⁶, Hiroshi Ozawa⁶, Hidenori Ito⁵, Ikumi Hori¹, Ayako Hattori¹, Yoshiyuki Takahashi², Koh-ichi Nagata⁵, Shinji Saitoh¹ (1.Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan, 2.Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan, 3.Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan, 4.Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan, 5.Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Japan, 6.Department of Pediatrics, Shimada Ryoiku Center Hachiouji, Tokyo, Japan)