Presentation Information
[II-TKIS-OR-1]Combined Contribution of SORBS2 and RBM20 for Atrial Septal Defect and Restrictive Cardiomyopathy
○Reika Sakurai1,2, Masaya Kunimatsu3, Keiko Uchida2,4, Tadashi Inoue2, Yuichiro Miyaoka5, Hiroyuki Yamagishi2,6 (1.Keio University School of Medicine, Tokyo, Japan, 2.The Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan, 3.The Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan, 4.The Department of Physiology, Tokyo Medical University, Tokyo, Japan, 5.Regenerative Medicine Project, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan, 6.Tokyo Metropolitan Children's Medical Center, Tokyo, Japan)
Keywords:
Restrictive cardiomyopathy,Whole exome sequencing,Oligogenic inheritance