The 59th Annual Meeting of the Japanese Society of Child Neurology

Presentation information

Oral Presentation

genetic abnormality

[O8] Oral Presentation
teratology 2

Fri. Jun 16, 2017 7:50 AM - 8:50 AM Room No.2 (6F Sub Hall)

Chair:Takahito Wada(Department of Medical Ethics and Medical Genetics, Kyoto University Graduate School of Medicine, Kyoto, Japan), Shin Nabatame(Department of Pediatrics, Graduate School of Medicine, Osaka University, Suita, Japan)

[O-045] Clinical heterogeneity of genetically confirmed nine patients with Vici syndrome

Ikumi Hori1, Takanobu Otomo2,3, Mitsuko Nakashima4, Fuyuki Miya5,6, Yutaka Negishi1, Ayako Hattori1, Naoki Ando1, Ichizo Nishino7, Tatsuhiko Tsunoda5,6, Hirotomo Saitsu4,8, Kenjiro Kosaki9, Naomichi Matsumoto4, Tamotsu Yoshimori2,3, Shinji Saitoh1 (1.Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan, 2.Department of Genetics, Osaka University Graduate School of Medicine, Osaka, Japan, 3.Research Center for Autophagy, Osaka University Graduate School of Medicine, Osaka, Japan, 4.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 5.Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan, 6.Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan, 7.Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan, 8.Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan, 9.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan)

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