Presentation Information
[P2-05]A Case Report of Xia-Gibbs Syndrome Caused by a Novel Frameshift Mutation in AHDC1
○Hironao Shirai1,2, Keiko Shimojima3,4, Yoshiki Oitani5, Toshiyuki Yamamoto1,3 (1.Division of Gene Medicine, Graduate School of Medicine, Tokyo Women's Medical University, Tokyo, Japan, 2.Department of Pediatrics, Kitasato University School of Medicine, kanagawa, Japan, 3.Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan, 4.Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan, 5.Department of Pediatrics, Tokyo Women's Medical University Adachi Medical Center, Tokyo, Japan)