{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T18:59:26Z","timestamp":1754161166568,"version":"3.41.2"},"reference-count":44,"publisher":"Informa UK Limited","license":[{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["TACG"],"DOI":"10.2147\/tacg.s524353","type":"journal-article","created":{"date-parts":[[2025,7,28]],"date-time":"2025-07-28T16:10:13Z","timestamp":1753719013000},"page":"147-152","source":"Crossref","is-referenced-by-count":0,"title":["A Unique Complex Variation Profile in a Patient with Familial Mediterranean Fever (FMF): Triple Homozygous E148Q-P369S-R408Q \u2013 \u201cCase Report\u201d"],"prefix":"10.2147","volume":"Volume 18","author":[{"given":"Nour","family":"Abi Chakra","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2325-4113","authenticated-orcid":true,"given":"Nadine","family":"Yazbeck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad","family":"Fattah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8870-2159","authenticated-orcid":true,"given":"Rima","family":"Hanna-Wakim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"301","published-online":{"date-parts":[[2025,7]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"2122","DOI":"10.55563\/clinexprheumatol\/u96fg0","volume":"41","author":"Ben-Chetrit","year":"2023","journal-title":"Clin Exp Rheumatol"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"1447","DOI":"10.1002\/art.24458","volume":"61","author":"Ben-Chetrit","year":"2009","journal-title":"Arthritis Rheum"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"1745","DOI":"10.3389\/fimmu.2019.01745","volume":"10","author":"Schnappauf","year":"2019","journal-title":"Front Immunol"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1038\/sj.ejhg.5200658","volume":"9","author":"Touitou","year":"2001","journal-title":"Eur J Hum Genet"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"104883","DOI":"10.1016\/j.yexmp.2024.104883","volume":"135","author":"Mezher","year":"2024","journal-title":"Exp Mol Pathol"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1093\/rheumatology\/kead439","volume":"63","author":"Ben-Chetrit","year":"2024","journal-title":"Rheumatology"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"1591","DOI":"10.3906\/sag-2008-11","volume":"50","author":"Tufan","year":"2020","journal-title":"Turk J Med Sci"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"1337","DOI":"10.3906\/sag-2001-261","volume":"50","author":"Satis","year":"2020","journal-title":"Turk J Med Sci"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"1707","DOI":"10.1007\/s10067-017-3715-5","volume":"36","author":"Alghamdi","year":"2017","journal-title":"Clin Rheumatol"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"530","DOI":"10.1136\/jmedgenet-2017-105216","volume":"55","author":"Van Gijn","year":"2018","journal-title":"J Med Genet"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1002\/humu.20720","volume":"29","author":"Milhavet","year":"2008","journal-title":"Hum Mutat"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"194","DOI":"10.1002\/humu.20080","volume":"24","author":"Touitou","year":"2004","journal-title":"Hum Mutat"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1093\/nar\/gkg031","volume":"31","author":"Sarrauste de Menthiere","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"ref14","unstructured":"Infevers: an online database for autoinflammatory mutations. Copyright; 2024. Available from: https:\/\/infevers.umai-montpellier.fr\/. Accessed November 7, 2024."},{"key":"ref15","doi-asserted-by":"publisher","first-page":"1506656","DOI":"10.3389\/fgene.2024.1506656","volume":"15","author":"Feghali","year":"2024","journal-title":"Front Genet"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"527","DOI":"10.5152\/TurkArchPediatr.2024.24188","volume":"59","author":"Kisla Ekinci","year":"2024","journal-title":"Turk Arch Pediatr"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"4403","DOI":"10.1007\/s00431-024-05716-y","volume":"183","author":"Aslan","year":"2024","journal-title":"Eur J Pediatr"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"1275","DOI":"10.1093\/rheumatology\/39.11.1275","volume":"39","author":"Kone Paut","year":"2000","journal-title":"Rheumatology"},{"key":"ref19","doi-asserted-by":"publisher","first-page":"456","DOI":"10.31362\/patd.1255344","volume":"16","author":"Karaer","year":"2023","journal-title":"Pamukkale Med J"},{"key":"ref20","doi-asserted-by":"crossref","unstructured":"Group WHOMGRS. WHO child growth standards based on length\/height, weight and age. Acta Paediatr Suppl. 2006;450:76\u201385. doi:10.1111\/j.1651-2227.2006.tb02378.x","DOI":"10.1111\/j.1651-2227.2006.tb02378.x"},{"key":"ref21","doi-asserted-by":"publisher","first-page":"1051","DOI":"10.1136\/annrheumdis-2015-208671","volume":"75","author":"Demirkaya","year":"2016","journal-title":"Ann Rheum Dis"},{"key":"ref22","doi-asserted-by":"publisher","first-page":"3219","DOI":"10.1007\/s10067-021-05652-4","volume":"40","author":"Ozdemir","year":"2021","journal-title":"Clin Rheumatol"},{"key":"ref23","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1111\/cge.14566","volume":"106","author":"Ben-Chetrit","year":"2024","journal-title":"Clin Genet"},{"key":"ref24","doi-asserted-by":"publisher","first-page":"1511","DOI":"10.1007\/s10067-021-06006-w","volume":"41","author":"Beshlawy","year":"2022","journal-title":"Clin Rheumatol"},{"key":"ref25","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1016\/0002-9343(67)90167-2","volume":"43","author":"Sohar","year":"1967","journal-title":"Am J Med"},{"key":"ref26","doi-asserted-by":"publisher","first-page":"1879","DOI":"10.1002\/art.1780401023","volume":"40","author":"Livneh","year":"1997","journal-title":"Arthritis Rheum"},{"key":"ref27","doi-asserted-by":"publisher","first-page":"1025","DOI":"10.1136\/annrheumdis-2019-215048","volume":"78","author":"Gattorno","year":"2019","journal-title":"Ann Rheum Dis"},{"key":"ref28","doi-asserted-by":"publisher","first-page":"3983","DOI":"10.1007\/s00431-023-05061-6","volume":"182","author":"Arik","year":"2023","journal-title":"Eur J Pediatr"},{"key":"ref29","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/j.clim.2016.08.016","volume":"171","author":"Badran","year":"2016","journal-title":"Clin Immunol"},{"key":"ref30","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1097\/MPG.0b013e318295fc65","volume":"57","author":"Gurkan","year":"2013","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"ref31","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1086\/302459","volume":"65","author":"Cazeneuve","year":"1999","journal-title":"Am J Hum Genet"},{"key":"ref32","doi-asserted-by":"publisher","first-page":"1671","DOI":"10.3899\/jrheum.081278","volume":"36","author":"Tsuchiya-Suzuki","year":"2009","journal-title":"J Rheumatol"},{"key":"ref33","first-page":"193","volume":"13","author":"Singh","year":"2018","journal-title":"Case Rep Int J Clin Rheumatol"},{"key":"ref34","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1080\/14397595.2017.1267173","volume":"27","author":"Yamagami","year":"2017","journal-title":"Mod Rheumatol"},{"key":"ref35","doi-asserted-by":"publisher","first-page":"1383","DOI":"10.1136\/ard.2009.113415","volume":"69","author":"Ryan","year":"2010","journal-title":"Ann Rheum Dis"},{"key":"ref36","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1016\/j.reumae.2020.02.005","volume":"17","author":"Blasco","year":"2021","journal-title":"Reumatol Clin"},{"key":"ref37","doi-asserted-by":"publisher","first-page":"22","DOI":"10.2174\/1874312901307010022","volume":"7","author":"Taniuchi","year":"2013","journal-title":"Open Rheumatol J"},{"key":"ref38","doi-asserted-by":"publisher","DOI":"10.4172\/2165-7920.1000790","volume":"6","author":"Tajika","year":"2016","journal-title":"J Clin Case Rep"},{"key":"ref39","doi-asserted-by":"publisher","first-page":"1583","DOI":"10.1038\/gim.2018.46","volume":"20","author":"Kriegshauser","year":"2018","journal-title":"Genet Med"},{"key":"ref40","doi-asserted-by":"publisher","first-page":"252","DOI":"10.5152\/eurasianjmed.2019.18396","volume":"51","author":"Celep","year":"2019","journal-title":"Eurasian J Med"},{"key":"ref41","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1007\/s11033-007-9105-3","volume":"35","author":"Sabbagh","year":"2008","journal-title":"Mol Biol Rep"},{"key":"ref42","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1097\/MD.0b013e318277cf75","volume":"91","author":"Migita","year":"2012","journal-title":"Medicine"},{"key":"ref43","doi-asserted-by":"publisher","DOI":"10.3390\/medsci8030035","volume":"8","author":"El Roz","year":"2020","journal-title":"Med Sci"},{"key":"ref44","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2018-228858","volume":"12","author":"Davies","year":"2019","journal-title":"BMJ Case Rep"}],"container-title":["The Application of Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.dovepress.com\/article\/download\/105246","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.dovepress.com\/article\/download\/105246","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,28]],"date-time":"2025-07-28T16:10:15Z","timestamp":1753719015000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.dovepress.com\/a-unique-complex-variation-profile-in-a-patient-with-familial-mediterr-peer-reviewed-fulltext-article-TACG"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7]]},"references-count":44,"URL":"https:\/\/doi.org\/10.2147\/tacg.s524353","relation":{},"ISSN":["1178-704X"],"issn-type":[{"type":"electronic","value":"1178-704X"}],"subject":[],"published":{"date-parts":[[2025,7]]}}}