Nodulosis-arthropathy-osteolysis syndrome: Difference between revisions
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==Overview== | ==Overview== | ||
Nodulosis-arthropathy-osteolysis syndrome is an osteolysis syndrome 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.<ref name="pmid19653001">{{cite journal |author=Gok F, Crettol LM, Alanay Y, ''et al.'' |title=Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene |journal=Eur. J. Pediatr. |volume=169 |issue=3 |pages=363–7 |year=2010 |month=March |pmid=19653001 |doi=10.1007/s00431-009-1028-7 |url=}}</ref> | Nodulosis-arthropathy-osteolysis syndrome is an osteolysis syndrome 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.<ref name="pmid19653001">{{cite journal |author=Gok F, Crettol LM, Alanay Y, ''et al.'' |title=Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene |journal=Eur. J. Pediatr. |volume=169 |issue=3 |pages=363–7 |year=2010 |month=March |pmid=19653001 |doi=10.1007/s00431-009-1028-7 |url=}}</ref> | ||
==References== | ==References== | ||
Revision as of 13:00, 25 July 2012
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 syndrome 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.[1]