ArticleBone reports2024
A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome.
Article in Bone reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Multicentric osteolysis nodulosis and arthropathy (MONA) is a rare skeletal dysplasia characterized primarily by progressive osteolysis, particularly affecting the carpal and tarsal bones, accompanied by osteoporosis. In addition, it features subcutaneous nodules on the palms and soles, along with the progressive onset of arthropathy, encompassing joint contractures, pain, swelling and stiffness. It is caused by a deficiency of the Matrix Metalloproteinase-2 (MMP2). In the current study we present a comprehensive clinical, radiological, genetic and
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