Presentation Information
[OE2-5]Long-molecule genomics analyses elucidating the hidden structural variations associated with MECP2 duplication syndrome
○Qiaowei Liang1, Yuri Uchiyama1,2, Ichiro Kuki3, Naomi Tsuchida1,2, Eriko Koshimizu1, Atsushi Fujita1, Satoko Miyatake1,4, Takeshi Mizuguchi1, Naomichi Matsumoto1 (1.Department of Human Genetics, Yokohama City University Graduate School of Medicine, 2.Department of Rare Disease Genomics, Yokohama City University Hospital, 3.Department of Pediatric Neurology, Osaka City General Hospital, 4.Department of Clinical Genetics, Yokohama City University Hospital)