Presentation Information
[III-TLR-6]Novel Germline Mosaic NKX2-5 Variant in Siblings with LV Noncompaction and AV Block and Functional Analysis Using Zebrafish
○Keiko Uchida1,2, Masaya Kunimatsu3, Iku Ito1,4, Tadashi Inoue2, Shigetomo Fukuhara5, Utako Yokoyama1, Hiroyuki Yamagishi1,2,6 (1.The Department of Physiology, Tokyo Medical University, Tokyo, Japan, 2.The Department of Pediatrics, Keio University School of Medicine, 3.The Department of Pediatrics, Graduate School of Medicine, Chiba University, 4.The Faculty of Medicine, The University of Tokyo, 5.The Department of Molecular Pathophysiology, Institute of Advanced Medical Sciences, Nippon Medical School, 6.Tokyo Metropolitan Children's Medical Center)
Keywords:
genetic analysis,left ventricular noncompaction,atrioventricular block
