Presentation Information

[P2-04-10]A case of CDKL5 deficiency disorder diagnosed by whole genome sequencing

Sachiko Ohori1,2, Yuika Ono1, Maho Ogiwara1, Shoka Shu1, Minami Ozawa1,3, Satomi Mitsuhashi4, Noriko Miyake5, Ohsuke Migita1,2,3, Yoshihisa Yamano4 (1.Department of Clinical genetics, St. Marianna University Hospital, Kawasaki, Japan, 2.Department of Laboratory Medicine, St. Marianna University School of Medicine, Kawasaki, Japan, 3.Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan, 4.Department of Neurology, St. Marianna University School of Medicine, Kawasaki, Japan, 5.Department of Human Genetics, National Center for Global Health and Medicine, Tokyo, Japan)

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