Presentation Information
[P1-03-10]A Case of a Patient with TUBB4A Variant Presenting with Isolated Cerebellar Atrophy without Hypomyelination
Arisa Nakamura1, Kentaro Shirai1, Koji Takahashi1, Hironao Shirai3, Keiko Shimojima2,3,5, Junichi Takanashi4, Toshiyuki Yamamoto2,3 (1.Department of Pediatrics, Tsuchiura, Japan, 2.Institute of Medical Genetics, Tokyo Womenʼs Medical University, Tokyo, Japan, 3.Division of Gene Medicine, Graduate School of Medical Science , Tokyo Womenʼs Medical University, Tokyo, Japan, 4.Department of Pediatrics and Pediatric Neurology, Tokyo Womenʼs Medical University Yachiyo Medical Center, Chiba, Japan, 5.Transfusion Medicine and Cell Processing, Tokyo Womenʼs Medical University, Tokyo, Japan)
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