Nodulosis-arthropathy-osteolysis syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Overview

Nodulosis-arthropathy-osteolysis syndrome is an osteolysis syndromes associated with matrix metalloproteinase-2 deficiency and mutations in the metalloproteinase-2 gene. It is characterized by carpal-tarsal destruction, subcutaneous nodules, and generalized osteoporosis and shows autosomal recessive inheritance.

References

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