Presentation Information
[P2-02-7]TRAPPC12-related Childhood Encephalopathy with Dysmorphic Features Caused by Two Novel TRAPPC12 Frameshift Variants
Kentaro Fukuda1, Mariko Endo1, Yuri Yoshida1, Shiho Ito1, Chiharu Suda1, Haruka Yamanaka1, Hiroshi Futagawa1, Nanako Kawata2, Mikako Enokizono3, Hiroshi Yoshihashi1 (1.Department of Clinical Genetics, Tokyo Metropolitan Childrenʼs Medical Center, 2.Department of Neurology, Tokyo Metropolitan Childrenʼs Medical Center, 3.Department of Radiology, Tokyo Metropolitan Childrenʼs Medical Center)
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