Coexistence of a novel WISP3 pathogenic variant and an MEFV mutation in an Arabic family with progre...
Coexistence of a novel WISP3 pathogenic variant and an MEFV mutation in an Arabic family with progressive pseudorheumatoid dysplasia mimicking polyarticular juvenile idiopathic arthritis
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London: BioMed Central Ltd
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English
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London: BioMed Central Ltd
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Background A spectrum of rare noninflammatory disorders may present with arthropathy that arises from bony dysplasia, a thickened synovium, and noninflammatory effusion, leading to a constellation of clinical features that mimics chronic polyarticular juvenile idiopathic arthritis (JIA). We report a unique Arabic family harboring a novel pathogenic...
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Full title
Coexistence of a novel WISP3 pathogenic variant and an MEFV mutation in an Arabic family with progressive pseudorheumatoid dysplasia mimicking polyarticular juvenile idiopathic arthritis
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TN_cdi_doaj_primary_oai_doaj_org_article_9513b445f3a54183a6aa03cd680470a4
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9513b445f3a54183a6aa03cd680470a4
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ISSN
1546-0096
E-ISSN
1546-0096
DOI
10.1186/s12969-020-00462-5
