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Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis‐Hyperphosphatemia Syndrome
Authors:Mary Scott Ramnitz  Pravitt Gourh  Raphaela Goldbach‐Mansky  Felasfa Wodajo  Shoji Ichikawa  Michael J Econs  Kenneth E White  Alfredo Molinolo  Marcus Y Chen  Theo Heller  Jaydira Del Rivero  Patricia Seo‐Mayer  Bita Arabshahi  Malaka B Jackson  Sarah Hatab  Edward McCarthy  Lori C Guthrie  Beth A Brillante  Rachel I Gafni  Michael T Collins
Affiliation:1. Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA;2. National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA;3. Musculoskeletal Tumor Surgery, Virginia Cancer Specialists, Fairfax, VA, USA;4. Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA;5. Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA;6. National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA;7. National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA;8. National Cancer Institute, National Institutes of Health, Bethesda, MD, USA;9. Division of Nephrology and Hypertension, Pediatric Specialists of Virginia and Georgetown University School of Medicine, Fairfax, VA, USA;10. Department of Rheumatology, Pediatric Specialists of Virginia, Fairfax, VA, USA;11. Department of Pediatric Endocrinology, University of South Carolina School of Medicine, Columbia, SC, USA;12. Department of Pediatric Endocrinology, Emory University School of Medicine, Atlanta, GA, USA;13. Department of Pathology, Johns Hopkins Hospital, Baltimore, MD, USA
Abstract:
Keywords:FAMILIAL TUMORAL CALCINOSIS  FIBROBLAST GROWTH FACTOR 23  HYPEROSTOSIS‐HYPERPHOSPHATEMIA SYNDROME  HYPERPHOSPHATEMIA
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