Presentation Information
[O17-5]A de novo PSMC5 p.Pro320Arg variant associated with neurodevelopmental disorder and facial dysmorphism
Nana Kushima1, Aki Ishikawa1,2,3, Kentaro Suda2,3, Tasuku Mariya2,4, Yosuke Nishio6,8,9, Tomoo Ogi6,7, Takeshi Tsugawa1, Akihiro Sakurai3,5 (1.Department of Pediatrics, School of Medicine, Sapporo Medical University, Sapporo, Japan, 2.Department of Clinical Genetics, Sapporo Medical University Hospital, Sapporo, Japan, 3.Department of Clinical Genomics, Division of Genomic and Preventive Medicine, Sapporo Medical University School of Medicine, Sapporo, Japan, 4.Department of Obstetrics and Gynecology, School of Medicine, Sapporo Medical University, Sapporo, Japan, 5.Center for Genomic Medicine, Caress Memorial Hospital, 6.Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan, 7.Department of Human Genetics and Molecular Biology, Nagoya University Graduate School of Medicine, Nagoya, Japan, 8.Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan, 9.Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan)
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