Presentation Information
[O5-1]X-Linked Hypophosphatemia with complex inverted duplication of intra PHEX gene
○Yuri Uchiyama1,2, Yuichi Takashi3, Eriko Koshimizu2, Naomi Tsuchida1,2, Atsushi Fujita2, Satoko Miyatake2,4, Takeshi Mizuguchi2, Daiji Kawanami3, Naomichi Matsumoto1,2,4 (1.Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan, 2.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 3.Department of Endocrinology and Diabetes, Fukuoka University School of Medicine, Fukuoka, Japan, 4.Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan)