{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T04:29:39Z","timestamp":1697689779020},"reference-count":7,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2012,6,7]],"date-time":"2012-06-07T00:00:00Z","timestamp":1339027200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Juvenile idiopathic arthritis is an inflammatory disease with various onset\u2010forms which can sometimes be difficult to distinguish from genetic inflammatory\/rheumatoid\u2010like osteoarthropathies. In this report, we describe two boys with severe chronic arthralgia, stiffness and swelling of joints, motor weakness and joints contractures evolving despite immunosuppressive treatments and for whom all biological and molecular exams failed to identify a prompt diagnosis. Some findings also overlap with pseudorheumatoid dysplasia but <jats:italic>WISP3<\/jats:italic> gene molecular analysis failed to identify any mutation for both patients. Therefore, we propose that these boys show a clinical entity distinct from the actually known genetic inflammatory\/rheumatoid\u2010like osteoarthropathies. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35424","type":"journal-article","created":{"date-parts":[[2012,6,7]],"date-time":"2012-06-07T20:16:24Z","timestamp":1339100184000},"page":"1754-1758","source":"Crossref","is-referenced-by-count":3,"title":["Progressive polyepiphyseal dysplasia with arthropathy: A distinct disorder from idiopathic juvenile arthritis and pseudorheumatoid dysplasia?"],"prefix":"10.1002","volume":"158A","author":[{"given":"Bertrand","family":"Isidor","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvaine","family":"Poignant","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georges","family":"Picherot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9","family":"M\u00e9gabarn\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Quartier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brigitte","family":"Bader\u2010Meunier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9dric","family":"Le Caignec","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine","family":"Le Merrer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Genevi\u00e8ve","family":"Baujat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Cormier\u2010Daire","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert","family":"David","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,6,7]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.24247"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.joca.2008.07.010"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/12699"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.185.2.01850522"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.25.14717"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.2.189-a"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33909"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35424","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35424","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:56:53Z","timestamp":1697615813000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35424"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6,7]]},"references-count":7,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2012,7]]}},"alternative-id":["10.1002\/ajmg.a.35424"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35424","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,6,7]]}}}