Presentation Information
[IP-04]A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities
○Masamune Sakamoto1,2,3, Kenji Kurosawa4, Koji Tanoue5, Kazuhiro Iwama1,6, Fumihiko Ishida6, Yoshihiro Watanabe7, Saoko Takeshita8, Nobuhiko Okamoto9, Atsushi Fujita1, Satoko Miyatake1,10, Takeshi Mizuguchi1, Naomichi Matsumoto1 (1.Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Kanagawa, Japan, 2.Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Kanagawa, Japan, 3.Department of Rare Disease Genomics, Yokohama City University Hospital, Kanagawa, Japan, 4.Division of Medical Genetics, Kanagawa Childrens Medical Center, Kanagawa, Japan, 5.Department of General Medicine, Kanagawa Childrens Medical Center, Kanagawa, Japan, 6.Perinatal Center for Maternity and Neonate, Yokohama City University Medical Center, Kanagawa, Japan, 7.Childrens Medical Center, Yokohama City University Medical Center, Kanagawa, Japan, 8.Department of Child Neurology, Yokohama Medical and Welfare Center Konan, Kanagawa, Japan, 9.Department of Medical Genetics, Osaka Womens and Childrens Hospital, Osaka, Japan, 10.Department of Clinical Genetics, Yokohama City University Hospital, Kanagawa, Japan)