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Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.
Zheng, Wen-Bin; Li, Lu-Jiao; Zhao, Di-Chen; Wang, Ou; Jiang, Yan; Xia, Wei-Bo; Xing, Xiao-Ping; Li, Mei.
Affiliation
  • Zheng WB; Key Laboratory of Endocrinology, Department of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Li LJ; Key Laboratory of Endocrinology, Department of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Zhao DC; Key Laboratory of Endocrinology, Department of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Wang O; Key Laboratory of Endocrinology, Department of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Jiang Y; Key Laboratory of Endocrinology, Department of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Xia WB; Key Laboratory of Endocrinology, Department of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Xing XP; Key Laboratory of Endocrinology, Department of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Li M; Key Laboratory of Endocrinology, Department of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Mol Genet Genomic Med ; 8(3): e1139, 2020 03.
Article in En | MEDLINE | ID: mdl-31972903
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Collagen Type II Type of study: Prognostic_studies Limits: Adult / Child, preschool / Female / Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2020 Document type: Article Affiliation country: China Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Collagen Type II Type of study: Prognostic_studies Limits: Adult / Child, preschool / Female / Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2020 Document type: Article Affiliation country: China Country of publication: United States