JCK-AP session 5-1 (II-JCKAP5-1)
Miscellaneous 1

[II-JCKAP5-1-4] The TMEM260 c.1617del variant is identified as the most frequent single gene determinant for persistent truncus arteriosus in Japanese population

^○Tadashi Inoue^1,2, Ryuta Takase², Keiko Uchida^1,3, Kazuki Kodo^1,4, Kenji Suda², Yoriko Watanabe^2,5, Masaya Kunimatsu^1,6, Reina Ishizaki¹, Hiroyuki Akagawa⁷, Hiroyuki Yamagishi^1,8 (1.Department of Pediatrics, Keio University School of Medicine, Tokyo, 2.Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, 3.Department of Physiology, Tokyo Medical University, Tokyo, 4.Department of Pediatrics, Tokyo Metropolitan Otsuka Hospital, Tokyo, 5.Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine, Fukuoka, 6.Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, 7.Institute for Comprehensive Medical Sciences, Tokyo Women's Medical University, Tokyo, 8.Tokyo Metropolitan Children's Medical Center, Tokyo)

Keywords:outflow tract defects, exome sequencing, heart development