[BO] Oral Presentation Award Session

[BO-2] Uncovering a deep Intronic FBN1 variant by genome and transcriptome sequencing in a Marfan syndrome patient

Moeka Yamagishi¹, Yosuke Nishio^2,3,4, Hidenori Yamamoto⁵, Koyo Tsujikawa², Kotaro Tsukada², Yasuyoshi Oka², Hironobu Morinaga², Kana Kato², Mayuko Shimada², Yuka Nakazawa^2,6, Yukako Muramatsu⁴, Shinji Saitoh⁷, Tomoo Ogi^2,8,9,10 (1.Nagoya University School of Medicine, Nagoya, Japan, 2.Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan, 3.Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan, 4.Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan, 5.Department of Pediatric Cardiology, Childrenʼs Heart Center, Nagoya University Hospital, Nagoya, Japan, 6.Department of Molecular Genetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan, 7.Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan, 8.Department of Human Genetics, Graduate School of Medicine, Nagoya University, Nagoya, Japan, 9.Center for One Medicine Innovative Translational Research (COMIT), Gifu University Institute for Advanced Study, Gifu, Japan, 10.Division of Molecular Physiology and Dynamics, Institute for Glyco-core Research (iGCORE), Tokai National Higher Education and Research System, Nagoya, Japan)

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