Presentation Information
[O4-1]Long-read sequencing analysis in two Beckwith-Wiedemann syndrome families caused by defects of OCT4/SOX2 binding site
○Masayo Kagami1, Hayate Masubuchi1, Tatsuki Urakawa1, Rika Kosaki2, Hideaki Yagasaki3, Hidenobu Soejima4, Tsutomu Ogata5, Maki Fukami1 (1.Department of Molecular Endocrinology, National Center for Child Health and Development, Tokyo, Japan, 2.Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan, 3.Department of Pediatrics, Yamanashi University, Yamanashi, Japan, 4.Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, Japan, 5.Department of Pediatrics, Hamamatsu Medical Center, Hamamatsu, Japan)