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Article

Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2

27 Jan 2005

Abstract excerpt

The inherited osteolysis syndromes are a heterogeneous group of skeletal disorders whose classification is still uncertain. Three osteolysis syndromes show autosomal recessive inheritance and multicentric involvement: Torg syndrome (OMIM 259600), Winchester syndrome (OMIM 277950) and Nodulosis-Arthropathy-Osteolysis syndrome (NAO; OMIM 605156). The 2001 Nosology of the International Skeletal Dysplasia Society...

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PMID: 15691365
DOI: 10.1111/j.1399-0004.2004.00402.x

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Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2PMID 15691365Read ↗

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Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.Semantic proximity Read ↗

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