Presentation Information
[OE3-1]A patient with argininosuccinic aciduria and Silver-Russell syndrome due to maternal uniparental disomy chromosome 7
○Atsushi Hattori1, Torayuki Okuyama2,3, Tetsumin So2, Motomichi Kosuga2, Keiko Ichimoto4, Kei Murayama4, Masayo Kagami1, Maki Fukami1, Yasuyuki Fukuhara2 (1.Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2.Division of Medical Genetics, National Center for Child Health and Development, 3.Department of Pediatrics and Clinical Genomics, Saitama Medical University, 4.Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital)