Presentation Information

[P2-07-12]Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity

Atsuhiro Ozaki1, Masamune Sakamoto1,2,3, Satoko Kumada4, Fusako Yokochi5, Keisuke Hamada6, Kazuhiro Ogata6, Naomi Tsuchida1,3, Yuri Uchiyama1,3, Eriko Koshimizu1, Atsushi Fujita1, Satoko Miyatake1,7, Takeshi Mizuguchi1, Naomichi Matsumoto1 (1.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 2.Department of Pediatrics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 3.Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan, 4.Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan, 5.Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan, 6.Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 7.Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan)

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