Presentation Information
[P2-08-5]Exome sequencing identified glycogen storage disease type IV from a girl with unexpected findings
○Mika Nakajima1, Tohru Ohta2, Hidefumi Tonoki3, Yuri Uchiyama4,5, Naomichi Matsumoto4 (1.Department of Pediatrics, Hakodate Central General Hospital, Hokkaido, Japan, 2.The Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, 3.Department of Clinical Genetics, Tenshi Hospital, Hokkaido, Japan, 4.Department of Human Genetics, Yokohama City University, Kanagawa, Japan, 5.Department of Rare Disease Genomics, Yokohama City University Hospital, Kanagawa, Japan)