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Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta.
Li, Lulu; Mao, Bin; Li, Shan; Xiao, Jifang; Wang, Han; Zhang, Jing; Ren, Xiuzhi; Wang, Yanzhou; Wu, Yiyang; Cao, Yixuan; Lu, Chaoxia; Gao, Jinsong; You, Yi; Zhao, Feiyue; Geng, Xingzhu; Xiao, Yaxiong; Jiang, Chendan; Ye, Yuqian; Yang, Tao; Zhao, Xiuli; Zhang, Xue.
Afiliación
  • Li L; Department of Medical Genetics & McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Mao B; Department of Medical Genetics & McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Li S; Department of Medical Genetics & McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Xiao J; Department of Medical Genetics & McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Wang H; Department of Medical Genetics & McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Zhang J; Department of Medical Genetics & McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Ren X; Department of Orthopaedic Surgery, The People's Hospital of Wuqing District, Tianjin, China.
  • Wang Y; Department of Pediatric Orthopaedics, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China.
  • Wu Y; Department of Medical Genetics & McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Cao Y; Department of Medical Genetics & McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Lu C; Department of Medical Genetics & McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Gao J; Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
  • You Y; Department of Medical Genetics & McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Zhao F; Department of Medical Genetics & McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Geng X; Department of Medical Genetics & McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Xiao Y; Department of Medical Genetics & McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Jiang C; Department of Medical Genetics & McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Ye Y; Department of Medical Genetics & McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Yang T; Department of Medical Genetics & McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Zhao X; Department of Medical Genetics & McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Zhang X; Department of Medical Genetics & McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
Hum Mutat ; 40(5): 588-600, 2019 05.
Article en En | MEDLINE | ID: mdl-30715774

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Fenotipo / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Genotipo Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Fenotipo / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Genotipo Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article