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Gok F et al. – The two well–described osteolysis syndromes associated with matrix metalloproteinase–2 deficiency and mutations in the metalloproteinase–2 gene are Torg–Winchester syndrome and nodulosis–arthropathy–osteolysis variant. They are characterized by carpal–tarsal destruction, subcutaneous nodules, and generalized osteoporosis and show autosomal recessive inheritance. Herein, authors report two siblings affected with a novel mutation in matrix metalloproteinase 2 gene and discuss their clinical and radiographic findings.


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