[P1] 遺伝・先天異常

[P1-18] A Case Of Early-Onset Neurodegerative Encephalopathy Associated With Mutations In Tubulin Folding Co-factor D

^○Koichi Tanda¹, Hidehito Kondo¹, Akira Nishimura¹, Takeshi Yoshida², Akira Inaba³, Takahito Wada³, Shinji Kosugi³, Mamiko Yamada⁵, Hisato Suzuki⁵, Toshiki Takeuchi⁴, Kenjiro Kosaki⁵ (1.Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, 2.Department of Pediatrics, Kyoto University Graduate School of Medicine, 3.Clinical Genetics Unit, Kyoto University Hospital, 4.Department of Pediatrics, Keio University School of Medicine, 5.Center for Medical Genetics, Keio University School of Medicine)