[IP] International Session（Poster Presentation）

[IP-07] Biallelic TFRC Variants Cause Neonatal Onset Multisystem Mitochondrial Disease First Human Case Report

Shimada Shino^1,2, Yatsuka Yukiko³, Akiba Takato¹, Matsuda Shimpei¹, Ookawa Natsuki¹, Shoji Hiromichi¹, Okazaki Yasushi³, Murayama Kei^1,3 (1.Department of Pediatrics and Adolescent Medicine, Juntendo University Graduate School of Medicine, 2.National Center for Global Health and Medicine, Medical Genomic Center, Tokyo, Japan., 3.Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University Graduate School of Medicine)

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