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

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General Oral Presentation

[O2] 遺伝子 2

Thu. May 30, 2024 10:50 AM - 11:50 AM Room7 (Bldg.2 3F 232＋233)

Organizer:Toshiyuki Yamamoto(Tokyo Women's Medical University),Yasunari Sakai(Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University)

[O2-1] A case of Aicardi-Goutieres syndrome with homozygous RNASEH2B variant in intron

○Yuri Shibata1,2, Akimichi Shibata3, Takeshi Mizuguchi4, Naomichi Matsumoto4, Hitoshi Osaka2 (1.Department of Pediatrics, Sano Kosei General Hospital, Sano, Japan, 2.Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan, 3.Department of Pediatrics, Japanese Red Cross Ashikaga Hospital, Ashikaga, Japan, 4.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan)

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