Presentation Information
[P1-12-19]A rare de novo CHD1 variant in a patient with Rett-like neurodevelopmental disorder
○Tomoe Yanagishita1, Yuriko Ogawa1, Rina Shimomura1,2, Keiko Shimojima Yamamoto3, Miho Nagata4, Yasuki Ishihara4, Kyoko Hirasawa1, Satoru Nagata1, Yoshihiro Asano4, Toshiyuki Yamamoto2,5 (1.Department of Pediatrics, Tokyo Womens Medical University, Tokyo, Japan, 2.Division of Gene Medicine, Graduate School of Medical Science, Tokyo Womens Medical University, Tokyo, Japan, 3.Transfusion Medicine and Cell Processing, Tokyo Womens Medical University, Tokyo, Japan, 4.Department of Cardiovascular Medicine (IRUD Analysis Center), Osaka University Graduate School of Medicine, 5.Institute of Medical Genetics, Tokyo Womens Medical University, Tokyo, Japan)