Presentation Information
[P2-03-02]A case of 3-year-old girl with Bainbridge-Ropers syndrome associated with ASXL3 de novo nonsense variant
Yu Shiguta1,2,3, Yuko Yatomi4, Kyoko Hoshino4, Megumi Ueda1,2,5, Rina Shimomura1,2, Hironao Shirai1,2,6, Yuiko Aoki1,2, Keiko Yamamoto (Shimojima)1,7, Toshiyuki Yamamoto1,2 (1. Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan, 2. Division of Gene Medicine, Graduate School of Medical Science, Tokyo Women's Medical University, Tokyo, Japan, 3. Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan, 4. Segawa Memorial Neurological Clinic for Children, Tokyo, Japan, 5. Department of Pediatrics, Tokyo Women's Medical University Adachi Medical Center, Tokyo, Japan, 6. Department of Pediatrics, Kitasato University School of Medicine, Sagami, Japan, 7. Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan)
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