[P1-03] Pediatric Genetics 1

[P1-03-06] A Case of a Novel TUBB3 Gene Variant Associated with Spastic Quadriplegia, EEG Abnormalities, and Cortical Dysplasia

Rina Shimomura^1,2, Megumi Ueda^2,3, Keiko Yamamoto Shimojima⁴, Kaoru Eto^2,5, Keiko Ishigaki² (1. Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan, 2. Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan, 3. Division of Gene Medicine, Graduate School of Medical Science, Tokyo Women's Medical University, Tokyo, Japan, 4. Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan, 5. Department of Pediatrics, Adachi Medical Center, Tokyo Women's Medical University, Toyko, Japan)

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