배준석 > BRIC 
 배준석 ( Jun - Seok Bae ) 
 조회 2445 
 Am . J . Hum . Genet . , Available online 26 May 2016 | doi : 10 . 1016 / j . ajhg . 2016 . 04 . 004 
 Sung Yoon Cho 1 , 18 , Jun - Seok Bae 2 , 3 , 18 , Nayoung K . D . Kim 2 , Francesca Forzano 4 , Katta Mohan Girisha 5 , Chiara Baldo 6 , Francesca Faravelli 4 , Tae - Joon Cho 7 , Dongsup Kim 8 , Kyoung Yeul Lee 8 , Shiro Ikegawa 9 , Jong Sup Shim 10 , Ah - Ra Ko 11 , Noriko Miyake 12 , Gen Nishimura 13 , Andrea Superti - Furga 14 , Jürgen Spranger 15 , Ok - Hwa Kim 16 , Woong - Yang Park 2 , 3 , 17 , *, Dong - Kyu Jin 1 , * 
 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 Department of Health Sciences and Technology , Samsung Advanced Institute for Health Sciences and Technology , Samsung Medical Center , Sungkyunkwan University School of Medicine , Seoul 06351 , Republic of Korea 
 4 Division of Medical Genetics , Galliera Hospital , Via Volta 6 , Genova 16128 , Italy 
 5 Department of Medical Genetics , Kasturba Medical College , Manipal University , Manipal 576104 , India 
 6 Laboratory of Human Genetics , Galliera Hospital , Genova 16128 , Italy 
 7 Division of Pediatric Orthopaedics , Seoul National University Children ’ s Hospital , Seoul 03080 , Republic of Korea 
 8 Department of Systems Biology , Korea Advanced Institute of Science and Technology , Daejon 34141 , Republic of Korea 
 9 Laboratory for Bone and Joint Diseases , RIKEN Center for Integrative Medical Sciences , Tokyo 108 - 8639 , Japan 
 10 Department of Orthopedic Surgery , Samsung Medical Center , Sungkyunkwan University School of Medicine , Seoul 06351 , Republic of Korea 
 11 Clinical Research Center , Samsung Biomedical Research Center , Seoul 06351 , Republic of Korea 
 12 Department of Human Genetics , Yokohama City University Graduate School of Medicine , Yokohama 236 - 0004 , Japan 
 13 Department of Pediatric Imaging , Tokyo Metropolitan Children ’ s Medical Center , Fuchu 183 - 8561 , Japan 
 14 Department of Pediatrics , Centre Hospitalier Universitaire Vaudois , University of Lausanne ( CHUV ) , Lausanne 1011 , Switzerland 
 15 Im Fuchsberg 14 , 76547 Sinzheim , Germany 
 16 Department of Radiology , Woorisoa Children ’ s Hospital , Seoul 08291 , Republic of Korea 
 17 Department of Molecular Cell Biology , Sungkyunkwan University School of Medicine , Suwon 16419 , Republic of Korea 
 18 These authors contributed equally to this work 
 * Correspondence : Woong - Yang Park , Dong - Kyu Jin 
 - 게 재 일 : 2016 년 05 월 ( BRIC 등록 일 2016 - 05 - 31 ) 
 XLR - SEMD 원인 유전자 규명 . .. 삼성 서울 병원 등 국내 연구 진 , 한국 . 이탈리아 . 인도 환자 분석 BGN 발견 사이언스 엠 디 | 2016 . 06 . 30 
 선천 적 으로 뼈 와 연골 에 이상 이 생겨 저 신장 과 골격계 이상 이 나타나 는 질환 인 ' 골 이 형성 증 ' 중 에서 도 특이 하 게 남자 에게 만 증상 이 나타나 고 성염색체 열 성 으로 유전 되 는 ‘ 척추골 단골 간단 이 형성 증 ( X - linked recessiv . .. 
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