Presentation Information
[OE3-4]De novo non-synonymous CTR9 variants are associated with intellectual disability, motor delay, and macrocephaly
○Hisato Suzuki1, Kana Aoki2, Kenji Kurosawa3, Kazuo Imagawa4, Tatsuyuki Ohto4, Mamiko Yamada1, Toshiki Takenouchi5, Kenjiro Kosaki1, Tohru Ishitani2 (1.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 2.Department of Homeostatic Regulation, Division of Cellular and Molecular Biology, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan, 3.Division of Medical Genetics, Kanagawa Children's Medical Center, Kanagawa, Japan, 4.Department of Child Health, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan, 5.Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan)