Presentation Information
[OE8-4]A genetic and functional analyses in a girl with Menkes disease caused by skewed X-chromosome inactivation
○Naoko Yano1, Takeshi Yoshida1, Satoshi Kajimoto1, Taisei Kayaki1, Kinuko Nishikawa1, Kengo Kora1, Saeko Sasaki1, Atsushi Yokoyama1, Chie Fujisawa2, Yasuhiro Sato3, Tadashi Kaname4, Hiroko Kodama5, Takita Junko1 (1.Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan, 2.Department of Research unit, School of Medicine, Faculty of Medicine, Toho University, Tokyo, Japan, 3.Department of Pediatrics, Teikyo University School of Medicine Graduate School of Medicine, Tokyo, Japan, 4.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 5.Course on Research for Nutrition and Growth, Teikyo Heisei University, Tokyo, Japan)