[P2-04] Poster Session 2-04　Mendelian Disorders

[P2-04-1] A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities

Masamune Sakamoto^1,2,3, Kenji Kurosawa⁴, Koji Tanoue⁵, Kazuhiro Iwama^1,6, Fumihiko Ishida⁶, Yoshihiro Watanabe⁷, Saoko Takeshita⁸, Nobuhiko Okamoto⁹, Naomi Tsuchida^1,3, Yuri Uchiyama^1,3, Eriko Koshimizu¹, Atsushi Fujita¹, Satoko Miyatake^1,10, Takeshi Mizuguchi¹, Naomichi Matsumoto¹ (1.Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan, 2.Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan, 3.Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan, 4.Division of Medical Genetics, Kanagawa Childrenʼs Medical Center, Yokohama, Japan, 5.Department of General Medicine, Kanagawa Childrenʼs Medical Center, Yokohama, Japan, 6.Perinatal Center for Maternity and Neonate, Yokohama City University Medical Center, Yokohama, Japan, 7.Childrenʼs Medical Center, Yokohama City University Medical Center, Yokohama, Japan, 8.Department of Child Neurology, Yokohama Medical and Welfare Center Konan, Yokohama, Japan, 9.Department of Medical Genetics, Osaka Womenʼs and Childrenʼs Hospital, Izumi, Japan, 10.Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan)

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