Presentation Information
[P1-06-5]Biallelic TFRC Variants Cause Neonatal-Onset Multisystem Mitochondrial Disease: The First Human Case Report
Shino Shimada1, Yatsuka Yukiko3, Takato Akiba2, Shimpei Matsuda2, Natsuki Okawa2, Hiromichi Shoji2, Yasushi Okazaki3, Kei Murayama2,3 (1.Medical Genome Center, Division of Genomic Medicine, National Institute of Global Health and Medicine, 2.Department of Pediatrics and Adolescent Medicine, Juntendo University Graduate School of Medicine, 3.Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University Graduate School of Medicine)
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