Presentation Information
[O7-1]Identification and analysis of loss-of-function variants in a repressor downstream ERK in Noonan syndrome
○Yusuke Goto1,2, Tetsuya Niihori1, Nobuhiko Okamoto3, Tsutomu Ogata4, Seiji Mizuno5, Kenji Kurosawa6, Hirofumi Ohashi7, Yoichi Matsubara8, Atsuo Kikuchi2, Taiki Abe1, Yoko Aoki1 (1.Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan, 2.Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan, 3.Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan, 4.Departments of Pediatrics and Biochemistry, Hamamatsu University of Medicine, Hamamatsu, Japan, 5.Department of Pediatrics, Central Hospital, Aichi Developmental Disability Center, Aichi, Japan, 6.Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan, 7.Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan, 8.National Center for Child Health and Development, Tokyo, Japan)