Presentation Information
[O9-3]Whole genome sequencing revealed complex genetic etiologies in a patient with multiple malformation and hypopigmentation
○Yuka Murofushi1, Yosuke Nishio1,2,3, Hidefumi Tonoki4, Naoko Asahina5, Tomoo Ogi2, Shinji Saitoh1 (1.Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan, 2.Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan, 3.Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan, 4.Medical Genetics Center, Tenshi Hospital, Sapporo, Japan, 5.Department of Pediatrics, Tenshi Chirdren's Medical Center, Tenshi Hospital, Sapporo, Japan)