Oral 8: Bone & minerals

[O8-2] BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia

^○Sung Yoon Cho¹, Jun-Seok Bae², Nayoung Kim², Francesca Forzano³, Katta Mohan Girisha⁴, Dongsup Kim⁵, Kyoung Yeul Lee⁵, Shiro Ikegawa⁶, Noriko Miyake⁷, Gen Nishimura⁸, Andrea Superti-Furga⁹, Ju¨rgen Spranger¹⁰, Ok-Hwa Kim¹¹, Woong-Yang Park², Dong-Kyu Jin¹ (1.Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea, 2.Samsung Genome Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea, 3.Division of Medical Genetics, Galliera Hospital, Via Volta 6, Genova 16128, Italy, 4.Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal 576104, India, 5.Department of Systems Biology, Korea Advanced Institute of Science and Technology, Daejon 34141, Republic of Korea, 6.Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan, 7.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan, 8.Department of Pediatric Imaging, Tokyo Metropolitan Children’s Medical Center, Fuchu 183-8561, Japan, 9.Department of Pediatrics, Centre HospitalierUniversitaire Vaudois, University of Lausanne (CHUV), Lausanne 1011, Switzerland, 10.Im Fuchsberg 14, 76547 Sinzheim, Germany, 11.Department of Radiology, Woorisoa Children’s Hospital, Seoul 08291, Republic of Korea)