Mutation of Membrane Type-1 Metalloproteinase, MT1-MMP, Causes the Multicentric Osteolysis and Arthritis Disease Winchester Syndrome

The “vanishing bone” syndromes represent a group of rare skeletal disorders characterized by osteolysis and joint destruction, which can mimic severe rheumatoid arthritis. Winchester syndrome was one of the first recognized autosomal-recessive, multicentric forms of the disorder. It was originally d...

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Main Authors: Evans, Brad R., Mosig, Rebecca A., Lobl, Mollie, Martignetti, Chiara R., Camacho, Catalina, Grum-Tokars, Valerie, Glucksman, Marc J., Martignetti, John A.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3512002/
https://ncbi.nlm.nih.gov/pubmed/22922033
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.07.022
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