Presentation Information
[OE9-4]Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome
○Rie Seyama1, Yuri Uchiyama1,3, Hiromi Aoi2, Kazuhiro Iwama1,4, Kohei Hamanaka1, Atsushi Fujita1, Naomi Tsuchida1,3, Eriko Koshimizu1, Kazuharu Misawa1, Satoko Miyatake1,5, Takeshi Mizuguchi1, Shintaro Makino6, Atsuo Itakura2, Naomichi Natsumoto1 (1.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 2.Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan, 3.Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan, 4.Department of Neonatal Medicine, Yokohama City University Medical Center, Yokohama, Japan, 5.Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan, 6.Department of Obstetrics and Gynecology, Juntendo University Urayasu Hospital, Urayasu, Japan)