Nodulosis-arthropathy-osteolysis syndrome: Difference between revisions

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{{SI}}
{{CMG}} {{AE}} {{RT}}


==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>
==References==
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[[category:Disease]]
[[Category:Genetics]]
[[Category:Rare diseases]]
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Revision as of 13:20, 27 July 2012