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Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.
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Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
SOX9 is a crucial transcriptional regulator of cartilage development and homeostasis. Dysregulation of is associated with a wide spectrum of skeletal disorders, including campomelic dysplasia, acampomelic campomelic dysplasia, and scoliosis. Yet how variants contribute to the spectrum of axial skeletal disorders is not well understood.
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Clin Rheumatol
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Center for Physical Medicine and Rehabilitation, University Clinical Center of Serbia, Belgrade, Serbia.
Ectopic calcifications occur in tendons, ligaments, entheses, muscles, and fasciae, and are often associated with pain and inflammation. In clinical settings, these calcifications are commonly treated by physical therapy and/or surgical interventions. However, there is not enough understanding of pharmacological treatments as primary cures, supportive therapy to physical or surgical treatment, or even preventive measures to avoid or diminish the development of ectopic calcifications.
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View Article and Find Full Text PDFLong-term posttransplant-related bone volumetric changes in eight face transplant recipients - A single-center retrospective case series.
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Yale School of Medicine, Division of Reconstructive and Plastic Surgery, New Haven, CT, USA. Electronic address:
Background: The long-term stability of allograft or native bone in facial vascularized composite allograft (fVCA) recipients is unclear. This study quantified long-term bone volume changes in facial transplants.
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