Presentation Information
[P1-12-20]A case report: Comprehensive genetic analysis in a boy initially suspected of SMA revealed a pathogenic variant in GNB2
○Yoshitaka Asagai1,2, Hiroaki Hanafusa1,2, Shoko Sonehara2, Yoshinori Nambu2, Hiroyuki Awano1,2,3, Kandai Nozu1,2, Ryousuke Bo1,2 (1.Department of Medical Genetics, Kobe University Hospital, 2.Department of Pediatrics, Kobe University Graduate School of Medicine, 3.Organization for Research Initiative and Promotion, Tottori University)