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BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
Cho, Sung Yoon; Bae, Jun-Seok; Kim, Nayoung K D; Forzano, Francesca; Girisha, Katta Mohan; Baldo, Chiara; Faravelli, Francesca; Cho, Tae-Joon; Kim, Dongsup; Lee, Kyoung Yeul; Ikegawa, Shiro; Shim, Jong Sup; Ko, Ah-Ra; Miyake, Noriko; Nishimura, Gen; Superti-Furga, Andrea; Spranger, Jürgen; Kim, Ok-Hwa; Park, Woong-Yang; Jin, Dong-Kyu.
  • Cho SY; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea.
  • Bae JS; Samsung Genome Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea; Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Samsung Medical Center, Sungkyunkwan University School of Medicin
  • Kim NKD; Samsung Genome Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea.
  • Forzano F; Division of Medical Genetics, Galliera Hospital, Via Volta 6, Genova 16128, Italy.
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal 576104, India.
  • Baldo C; Laboratory of Human Genetics, Galliera Hospital, Genova 16128, Italy.
  • Faravelli F; Division of Medical Genetics, Galliera Hospital, Via Volta 6, Genova 16128, Italy.
  • Cho TJ; Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul 03080, Republic of Korea.
  • Kim D; Department of Systems Biology, Korea Advanced Institute of Science and Technology, Daejon 34141, Republic of Korea.
  • Lee KY; Department of Systems Biology, Korea Advanced Institute of Science and Technology, Daejon 34141, Republic of Korea.
  • Ikegawa S; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan.
  • Shim JS; Department of Orthopedic Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea.
  • Ko AR; Clinical Research Center, Samsung Biomedical Research Center, Seoul 06351, Republic of Korea.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Nishimura G; Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu 183-8561, Japan.
  • Superti-Furga A; Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, University of Lausanne (CHUV), Lausanne 1011, Switzerland.
  • Spranger J; Im Fuchsberg 14, 76547 Sinzheim, Germany.
  • Kim OH; Department of Radiology, Woorisoa Children's Hospital, Seoul 08291, Republic of Korea.
  • Park WY; Samsung Genome Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea; Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Samsung Medical Center, Sungkyunkwan University School of Medicin
  • Jin DK; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea. Electronic address: jindk@skku.edu.
Am J Hum Genet ; 98(6): 1243-1248, 2016 06 02.
Article en En | MEDLINE | ID: mdl-27236923

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Enfermedades Genéticas Ligadas al Cromosoma X / Biglicano / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Año: 2016 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Enfermedades Genéticas Ligadas al Cromosoma X / Biglicano / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Año: 2016 Tipo del documento: Article