[P1] 遺伝・先天異常

[P1-23] A patient of SMID with childhood neurodegeneration associated with heterozygous de novo UBTF variant.

^○Yumi Okoshi¹, Chiemi Touhara², Masahiro Ito¹, Eriko Koshimizu³, Satoko Miyatake^3,4, Naomichi Matsumoto³ (1.Department of Pediatrics, Tokyo Metropolitan Fuchu Medical Center for the Disabled, Tokyo, Japan, 2.Department of Orthopedics, Tokyo Metropolitan Fuchu Medical Center for the Disabled, Tokyo, Japan, 3.Department of Genetics, Yokohama City University, Graduate School of Medicine, Kanagawa, Japan, 4.Department of Clinical Genetics, Yokohama City University Hospital, Kanagawa, Japan)