JSCN2019

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English session

Genetics / Genetic abnormality

[E5] English session
Genetics / Genetic abnormality

Sat. Jun 1, 2019 1:30 PM - 2:30 PM Room 8 (Conference Room 131+132, 3F, Bldg. 1)

Chair: Toshiki Takenouchi (Department of Pediatrics, Keio University School of Medicine), Hitoshi Osaka (Department of Pediatrics, Jichi Medical University)

[E-029] Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome

Yusuke Takezawa1, Hiromi Fujie2, Atsuo Kikuchi1, Tetsuya Niihori3, Ryo Funayama4, Matsuyuki Shirota5, Keiko Nakayama6, Yoko Aoki3, Masayuki Sasaki6, Shigeo Kure1 (1.Department of Pediatrics, Tohoku University School of Medicine, 2.Department of Pediatrics, Iwaki Kyoritsu General Hospital, Fukushima, Japan, 3.Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan, 4.Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, 5.Division of Interdisciplinary Medical Sciences, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, 6.Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan)

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