{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T08:59:21Z","timestamp":1781081961678,"version":"3.54.1"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3888,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Muckle\u2010Wells syndrome is a rare autosomal dominant disorder characterized by chronic recurrent urticaria, periodic arthritis, sensorineural deafness, general signs of inflammation, and secondary amyloidosis (AA type). We report on a 4\u2010generation family with 7 persons sharing various signs of this syndrome associated with bipolar aphthosis in 5 cases and cystinuria in one. Two other relatives in the family had ichthyosis. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320530115","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:44:53Z","timestamp":1118511893000},"page":"72-74","source":"Crossref","is-referenced-by-count":17,"title":["Autosomal dominant Muckle\u2010Wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four\u2010generation family"],"prefix":"10.1002","volume":"53","author":[{"given":"J.\u2010M.","family":"Berthelot","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Maugars","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Robillard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Pascal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.\u2010F.","family":"Stalder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"David","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Prost","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(67)90273-2"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-70-5-989"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000441-196809000-00005"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.5478.31"},{"key":"e_1_2_1_6_1","first-page":"2223","article-title":"Syndrome de Muckle et Wells","volume":"34","author":"Lagrue G","year":"1972","journal-title":"Nouv Press Med"},{"key":"e_1_2_1_7_1","first-page":"698","article-title":"Identification of amyloid A protein in a sporadic Muckle\u2010Wells syndrome","volume":"48","author":"Linke RP","year":"1983","journal-title":"Lab Invest"},{"key":"e_1_2_1_8_1","first-page":"1363","article-title":"Maladie p\u00e9riodique et syndrome de Muckle et Wells","volume":"3","author":"Mamou H","year":"1974","journal-title":"Nouv Press Med"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198408023110503"},{"key":"e_1_2_1_10_1","first-page":"235","article-title":"Urticaria, deafness and amyloidosis: A new heredofamilial syndrome","volume":"31","author":"Muckle TJ","year":"1962","journal-title":"Q J Med"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1979.tb03572.x"},{"key":"e_1_2_1_12_1","first-page":"651","article-title":"Surdit\u00e9, urticaire, arthrites, hypogonadisme et insuffisance r\u00e9nale Le syndrome de Muckle et Wells","volume":"63","author":"Perrotet C","year":"1974","journal-title":"Praxis"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199206043262301"},{"key":"e_1_2_1_14_1","first-page":"201","article-title":"Rhumatisme intermittent r\u00e9v\u00e9lateur d'un syndrome familial arthrites\u2010\u00e9ruption urticarienne\u2010surdit\u00e9: Syndrome de Muckle et Wells sans amylose r\u00e9nale","volume":"43","author":"Prost A","year":"1976","journal-title":"Rev Rhum Mai Osteoartic"},{"key":"e_1_2_1_15_1","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1093\/ajcp\/92.6.821","article-title":"Amyloid goiter and arhritides after kidney transplantation in a patient with systemic amyloidosis and Muckle\u2010Wells syndrome","volume":"92","author":"Schwarz RE","year":"1990","journal-title":"Am J Clin Pathol"},{"key":"e_1_2_1_16_1","first-page":"105","article-title":"Syndrome de Muckle et Wells, ou association de crises arthralgiques, de pouss\u00e9es urticariennes et de surdit\u00e9 sensorielle?","volume":"54","author":"Serratrice G","year":"1987","journal-title":"Rev Rhum Mai Ost\u00e9oartic"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(90)90535-L"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320530115","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320530115","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T12:39:39Z","timestamp":1698237579000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320530115"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,10,15]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1994,10,15]]}},"alternative-id":["10.1002\/ajmg.1320530115"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320530115","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,10,15]]}}}