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

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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 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]

References

  1. Gok F, Crettol LM, Alanay Y; et al. (2010). "Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene". Eur. J. Pediatr. 169 (3): 363–7. doi:10.1007/s00431-009-1028-7. PMID 19653001. Unknown parameter |month= ignored (help)


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