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Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review.
Wu, Huixiao; Wang, Shuping; Li, Guimei; Yao, Yangyang; Wang, Ning; Sun, Xiaoqing; Fang, Li; Jiang, Xiuyun; Zhao, Jiajun; Wang, Yanzhou; Xu, Chao.
Afiliación
  • Wu H; Department of Endocrinology and Metabolism, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.
  • Wang S; Department of Endocrinology and Metabolism, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China.
  • Li G; Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan, China.
  • Yao Y; Shandong Clinical Medical Center of Endocrinology and Metabolism, Jinan, China.
  • Wang N; Department of Endocrinology and Metabolism, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.
  • Sun X; Department of Endocrinology and Metabolism, Dongying people's Hospital, Dongying, China.
  • Fang L; Department of Pediatric, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China.
  • Jiang X; Department of Pediatric Orthopedics, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China.
  • Zhao J; Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan, China.
  • Wang Y; Shandong Clinical Medical Center of Endocrinology and Metabolism, Jinan, China.
  • Xu C; Institute of Endocrinology, Shandong Academy of Clinical Medicine, Jinan, China.
Mol Genet Genomic Med ; 9(5): e1668, 2021 05.
Article en En | MEDLINE | ID: mdl-33764685
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Colágeno Tipo X Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Mol Genet Genomic Med Año: 2021 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Colágeno Tipo X Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Mol Genet Genomic Med Año: 2021 Tipo del documento: Article