The 66th Annual Meeting of the Japanese Society of Child Neurology

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General Oral Presentation

[O30] 遺伝・先天異常 2

Sat. Jun 1, 2024 9:40 AM - 10:40 AM Room8 (Bldg.1 3F 131＋132)

Organizer:Shin Nabatame(Department of Pediatrics, Osaka University Graduate School of Medicine),Tomohiro Chiyonobu(Department of Molecular Diagnostics and Therapeutics, Kyoto Prefectural University of Medicine)

[O30-1] Novel TPRKB gene variants identified in a case with Galloway-Mowat syndrome

○Takuya Hiraide1, Taiju Hayashi1,2, Yusuke Ito1, Rei Urushibata1, Hiroshi Uchida1, Ryoichi Kitagata1, Hidetoshi Ishigaki1, Tsutomu Ogata1,2, Hirotomo Saitsu2, Tokiko Fukuda1,3 (1.Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan, 2.Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan, 3.Department of Hamamatsu Child Health and Development, Hamamatsu University School of Medicine, Hamamatsu, Japan)

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