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Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.

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作者单位: Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland, and Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Finland. [1] Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. [2] Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands. [3] Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA. [4] Centre for Bone and Arthritis Research, Department of Internal Medicine and Clinical Nutrition, Institute for Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. [5] Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Vienna, Austria. [6] Molecular Cell Biology Division, Department of Biology/Chemistry, University of Osnabrück, Osnabrück, Germany. [7] Department of Biochemistry and Developmental Biology, Faculty of Medicine, University of Helsinki, Helsinki, Finland. [8] Division of Pediatric Endocrinology & Diabetes, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA. [9] Department of Pathology, University of Utah, Salt Lake City, Utah, USA, and ARUP Laboratories, Salt Lake City, Utah, USA. [10] Department of Microbiology and Immunology, Institute for Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. [11] Laboratory of Metabolic Diseases, University Medical Center Utrecht, Utrecht, Netherlands. [12] Minerva Foundation Institute for Medical Research, Biomedicum, Helsinki, Finland, and Department of Anatomy, Faculty of Medicine, University of Helsinki, Helsinki,Finland. [13] Biochemistry and Biophysics Division, Bijvoet Center and Institute of Biomembranes, Utrecht University, Utrecht, Netherlands. [14] Department of Molecular Medicine and Surgery, Karolinska Institutet, and Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden. [15]
DOI 10.1172/jci.insight.126180
PMID 30779713
发布时间 2021-11-20
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