{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T17:48:55Z","timestamp":1777312135219,"version":"3.51.4"},"reference-count":94,"publisher":"Hamad bin Khalifa University Press (HBKU Press)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024]]},"abstract":"Background: Familial Mediterranean fever (FMF) is an autosomal recessive disease caused by mutations in the MEFV gene and is characterized by recurrent febrile episodes of abdominal pain, chest pain, and joint involvement. We aim to study the clinical and genetic features of FMF in Moroccan children and to establish a phenotype\u2013genotype correlation in this group of patients.<\/jats:p>\n \n Methods: A total of 35 patients were included in this study. Genetic analysis of exon 10 of the\n MEFV<\/jats:italic>\n gene was performed in 33 patients. To establish a phenotype\u2013genotype correlation, we statistically compared clinical features between patients with and without the\n M694V<\/jats:italic>\n mutation.\n <\/jats:p>\n \n Results: Abdominal pain was observed in 82.9% of our patients, followed by fever (74.3%), arthralgia (85.7%), arthritis (42.8%), chest pain (34.3%), and IgA vasculitis (20%). Genetic analysis showed a predominance of the\n M694V<\/jats:italic>\n mutation (62.5%), followed by\n A744S<\/jats:italic>\n (11.4%) and K695R (5.7%). The presence of the\n M694V<\/jats:italic>\n genotype was found to be significantly associated with a high frequency of arthralgia and arthritis. A significant association was found with an earlier age of onset in the absence of the\n M694V<\/jats:italic>\n mutation.\n <\/jats:p>\n \n Conclusion: Joint involvement is more common in the\n M694V<\/jats:italic>\n genotype, and the genetic profile shows different results compared to neighboring countries.\n <\/jats:p>","DOI":"10.5339\/qmj.2024.41","type":"journal-article","created":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T08:30:38Z","timestamp":1761640238000},"source":"Crossref","is-referenced-by-count":1,"title":["Phenotype\u2013genotype correlation in children with familial Mediterranean fever in Morocco"],"prefix":"10.5339","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0247-546X","authenticated-orcid":true,"given":"Manal","family":"Souali","sequence":"first","affiliation":[{"name":"Laboratory of Clinical Immunology, Inflammation and Allergy (LICIA), Hassan II University - Faculty of Medicine and Pharmacy of Casablanca, Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asmaa","family":"Sakhi","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Immunology, Inflammation and Allergy (LICIA), Hassan II University - Faculty of Medicine and Pharmacy of Casablanca, Morocco"},{"name":"Pediatric Rheumatology and Internal Medicine Unit, A. Harouchi Mother and Child Hospital, Ibn Rochd University Hospital Center, Casablanca, Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5011-9873","authenticated-orcid":true,"given":"Ahmed Aziz","family":"Bousfiha","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Immunology, Inflammation and Allergy (LICIA), Hassan II University - Faculty of Medicine and Pharmacy of Casablanca, Morocco"},{"name":"Clinical Immunology and Infectious diseases Unit, A. Harouchi Mother and Child Hospital, Ibn Rochd University Hospital Center, Casablanca, Morocco*Correspondence: Manal Souali soualimanal@gmail.com"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4636-7396","authenticated-orcid":true,"given":"Kenza","family":"Bouayed","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Immunology, Inflammation and Allergy (LICIA), Hassan II University - Faculty of Medicine and Pharmacy of Casablanca, Morocco"},{"name":"Pediatric Rheumatology and Internal Medicine Unit, A. Harouchi Mother and Child Hospital, Ibn Rochd University Hospital Center, Casablanca, Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3277","reference":[{"key":"CIT0001","series-title":"Intern Med","first-page":"43-50","article-title":"The expanding spectrum of autoinflammatory diseases","volume":"62","author":"Migita\n \nK","year":"2023;"},{"key":"CIT0002","series-title":"N\u00e9phrol Th\u00e9r","first-page":"S119-25","article-title":"Fi\u00e8vre m\u00e9diterran\u00e9enne familiale en 2020","volume":"17","author":"Savey\n \nL","year":"2021;"},{"key":"CIT0003","article-title":"Textbook of autoinflammation","author":"Hashkes\n \nPJ","year":"2019"},{"issue":"(10):","key":"CIT0004","series-title":"Turk J Med Sci","first-page":"1591-610","article-title":"Familial Mediterranean fever, from pathogenesis to treatment: A contemporary review","volume":"50","author":"Tufan\n \nA","year":"2020;"},{"key":"CIT0005","series-title":"Int J Mol Sci","first-page":"9584","article-title":"An update on familial Mediterranean fever","volume":"24","author":"Lancieri\n \nM","year":"2023;"},{"key":"CIT0006","series-title":"Rheumatol Int","first-page":"95-100","article-title":"Contribution of Arab countries to familial Mediterranean fever research: A PubMed-based bibliometric analysis","volume":"42","author":"Masri\n \nDE","year":"2022;"},{"key":"CIT0007","series-title":"J Autoimmun","first-page":"102305","article-title":"Autoinflammation: Lessons from the study of familial Mediterranean fever","volume":"104","author":"Skendros\n \nP","year":"2019;"},{"key":"CIT0008","series-title":"Mol Biol Rep","first-page":"1835-43","article-title":"A comprehensive molecular analysis and genotype\u2013phenotype correlation in patients with familial mediterranean fever","volume":"47","author":"Balta\n \nB","year":"2020;"},{"key":"CIT0009","article-title":"Infevers","year":"2014"},{"key":"CIT0010","series-title":"Genetic disorders among Arab populations","first-page":"p. 455-72","article-title":"Genetic disorders in Morocco. In: Teebi AS, editor","author":"Sefiani\n \nA","year":"2010"},{"key":"CIT0011","series-title":"Rheumatol Int","first-page":"21-7","article-title":"Performance of Tel-Hashomer, Livneh, pediatric and new Eurofever\/PRINTO classification criteria for familial Mediterranean fever in a referral center","volume":"40","author":"Tanatar\n \nA","year":"2020;"},{"key":"CIT0012","series-title":"Nucleic Acids Res","first-page":"1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller\n \nSA","year":"1988;"},{"key":"CIT0013","series-title":"Gene","first-page":"9-13","article-title":"MEFV mutations and their relation to major clinical symptoms of familial Mediterranean fever","volume":"626","author":"Cekin\n \nN","year":"2017;"},{"key":"CIT0014","series-title":"Lancet","first-page":"1016-24","article-title":"Familial mediterranean fever in Arabs","volume":"367","author":"El-Shanti\n \nH","year":"2006;"},{"key":"CIT0015","series-title":"Mediterr J Rheumatol","first-page":"206","article-title":"Genotype mutations in Egyptian children with familial Mediterranean fever: Clinical profile, and response to colchicine","volume":"31","author":"Talaat\n \nHS","year":"2020;"},{"key":"CIT0016","series-title":"Semin Arthritis Rheum","first-page":"397-401","article-title":"MEFV mutations in Tunisian patients suffering from familial Mediterranean fever","volume":"36","author":"Chaabouni\n \nHB","year":"2007;"},{"key":"CIT0017","series-title":"Rheumatol Int","first-page":"489-96","article-title":"Familial Mediterranean fever","volume":"26","author":"Onen\n \nF","year":"2006;"},{"key":"CIT0018","series-title":"Turk J Nephrol","first-page":"68-74","article-title":"Evaluation of genotypic and phenotypic characteristics of children with familial Mediterranean fever in Eastern Turkey","volume":"28","author":"Kalem\n \nH","year":"2019;"},{"key":"CIT0019","series-title":"Intern Med","first-page":"1373-8","article-title":"Clinical and genetic analysis of 22 Japanese patients with familial Mediterranean fever: An examination of MEFV and 10 other genes related to autoinflammatory syndromes","volume":"59","author":"Fujimoto\n \nK","year":"2020;"},{"key":"CIT0020","series-title":"Rheumatol Int","first-page":"629-34","article-title":"Familial Mediterranean fever in Syrian children: Phenotype\u2013genotype correlation","volume":"35","author":"Jarjour\n \nRA","year":"2015;"},{"key":"CIT0021","series-title":"Front Immunol","first-page":"763","article-title":"Association of vasculitis and familial Mediterranean fever","volume":"10","author":"Abbara\n \nS","year":"2019;"},{"issue":"(3082):","key":"CIT0022","series-title":"Leban Med J","first-page":"1-5","article-title":"Henoch-Schonlein purpura in childhood a fifteen-year experience at a tertiary hospital","volume":"103","author":"Albaramki\n \nJ","year":"2016;"},{"key":"CIT0023","series-title":"Med Arch","first-page":"417","article-title":"Genetic profile of patients with familial Mediterranean fever (FMF): Single center experience at King Hussein medical center (KHMC)","volume":"69","author":"Habahbeh\n \nL","year":"2015;"},{"key":"CIT0024","series-title":"J Hum Genet","first-page":"389-93","article-title":"Genotype\u2013phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations","volume":"55","author":"Moradian\n \nMM","year":"2010;"},{"key":"CIT0025","series-title":"Klin Padiatr","first-page":"325-30","article-title":"Genotype-phenotype and genotype-origin correlations in children with Mediterranean fever in Germany \u2013 an AID-net study","volume":"225","author":"Jeske\n \nM","year":"2013;"},{"key":"CIT0026","series-title":"Rheumatology","first-page":"741-5","article-title":"Amyloidosis and its related factors in Turkish patients with familial Mediterranean fever: A multicentre study","volume":"53","author":"Kasifoglu\n \nT","year":"2014;"},{"key":"CIT0027","series-title":"Ann Hum Genet","first-page":"423-30","article-title":"Differential mutational profiles of familial Mediterranean fever in North Africa","volume":"84","author":"Ait-Idir\n \nD","year":"2020;"},{"key":"CIT0028","series-title":"Rheumatol Int","first-page":"981-4","article-title":"MEFV mutations in Moroccan patients suffering from familial Mediterranean fever","volume":"32","author":"Belmahi\n \nL","year":"2012;"},{"key":"CIT0029","series-title":"Rheumatology (Oxford)","first-page":"2306-10","article-title":"Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population","volume":"50","author":"Ait-Idir\n \nD","year":"2011;"},{"key":"CIT0030","series-title":"Orphanet J. Rare Dis","first-page":"167","article-title":"A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry","volume":"12","author":"Papa\n \nR","year":"2017;"},{"key":"CIT0031","series-title":"Genet Med","first-page":"1583-8","article-title":"Clinical and genetic heterogeneity in a large cohort of Armenian patients with late-onset familial Mediterranean fever","volume":"20","author":"Kriegsh\u00e4user\n \nG","year":"2018;"},{"key":"CIT0032","series-title":"Clin Chem","first-page":"525-36","article-title":"ISSAID\/EMQN best practice guidelines for the genetic diagnosis of monogenic autoinflammatory diseases in the next-generation sequencing era","volume":"66","author":"Shinar\n \nY","year":"2020;"},{"key":"CIT0033","series-title":"Comptes Rendus Biol","first-page":"71-4","article-title":"Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever","volume":"329","author":"Belmahi\n \nL","year":"2006;"},{"key":"CIT0034","series-title":"Lupus","first-page":"705-11","article-title":"Familial Mediterranean fever gene (MEFV) mutations and disease severity in systemic lupus erythematosus (SLE): Implications for the role of the E148Q MEFV allele in inflammation","volume":"24","author":"Deniz\n \nR","year":"2015;"},{"issue":"(6 Suppl. 94):","key":"CIT0035","series-title":"Clin Exp Rheumatol","first-page":"S19-23","article-title":"The carrier rate and spectrum of MEFV gene mutations in central and southeastern European populations","volume":"33","author":"Debeljak\n \nM","year":"2015;"},{"key":"CIT0036","series-title":"Best Pract Res Clin Rheumatol","first-page":"254-60","article-title":"Update on the epidemiology and disease outcome of familial Mediterranean fever","volume":"32","author":"\u00d6zen\n \nS","year":"2018;"},{"key":"CIT0037","series-title":"Ann Rheum Dis","first-page":"662-7","article-title":"Results from a multicentre international registry of familial Mediterranean fever: Impact of environment on the expression of a monogenic disease in children","volume":"73","author":"Ozen\n \nS","year":"2014;"},{"key":"CIT0038","series-title":"Rheumatology","first-page":"i4-11","article-title":"Update on colchicine, 2017","volume":"57","author":"Slobodnick\n \nA","year":"2018;"},{"key":"CIT0039","series-title":"Rheumatology (Oxford)","first-page":"1275-9","article-title":"Phenotype-genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of cutaneomucous features","volume":"39","author":"Kon\u00e9 Paut\n \nI","year":"2000;"},{"key":"CIT0040","series-title":"Eur J Hum Genet","first-page":"95-7","article-title":"Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF)","volume":"6","author":"Dewalle\n \nM","year":"1998;"},{"key":"CIT0041","series-title":"Int J Rheum Dis","first-page":"880-4","article-title":"Comparison of early versus late onset familial Mediterranean fever","volume":"21","author":"Yasar Bilge\n \nNS","year":"2018;"},{"key":"CIT0042","series-title":"J Med Cases","first-page":"351-4","article-title":"M680I\/M694V heterozygous mutation in early onset familial Mediterranean fever","volume":"12","author":"Darwish\n \nWM","year":"2021;"},{"key":"CIT0043","series-title":"Med Sci","first-page":"35","article-title":"Spectrum of MEFV variants and genotypes among clinically diagnosed FMF patients from Southern Lebanon","volume":"8","author":"El Roz\n \nA","year":"2020;"},{"key":"CIT0044","series-title":"Ann Rheum Dis","first-page":"455-61","article-title":"MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease","volume":"73","author":"Stoffels\n \nM","year":"2014;"},{"key":"CIT0045","series-title":"Front Microbiol","first-page":"456","article-title":"Update on pyrin functions and mechanisms of familial Mediterranean fever","volume":"7","author":"Manukyan\n \nG","year":"2016;"},{"key":"CIT0046","series-title":"Front Pediatr","first-page":"805919","article-title":"Real-Life data from the largest pediatric familial Mediterranean fever cohort","volume":"9","author":"\u00d6zt\u00fcrk\n \nK","year":"2022;"},{"key":"CIT0047","series-title":"Pan Afr Med J","first-page":"121","article-title":"Correlation genotype-phenotype: MEFV gene mutations and Moroccan patients with rheumatoid arthritis","volume":"41","author":"Missoum\n \nH","year":"2022;"},{"key":"CIT0001","series-title":"Intern Med","first-page":"43-50","article-title":"The expanding spectrum of autoinflammatory diseases","volume":"62","author":"Migita\n \nK","year":"2023;"},{"key":"CIT0002","series-title":"N\u00e9phrol Th\u00e9r","first-page":"S119-25","article-title":"Fi\u00e8vre m\u00e9diterran\u00e9enne familiale en 2020","volume":"17","author":"Savey\n \nL","year":"2021;"},{"key":"CIT0003","article-title":"Textbook of autoinflammation","author":"Hashkes\n \nPJ","year":"2019"},{"issue":"(10):","key":"CIT0004","series-title":"Turk J Med Sci","first-page":"1591-610","article-title":"Familial Mediterranean fever, from pathogenesis to treatment: A contemporary review","volume":"50","author":"Tufan\n \nA","year":"2020;"},{"key":"CIT0005","series-title":"Int J Mol Sci","first-page":"9584","article-title":"An update on familial Mediterranean fever","volume":"24","author":"Lancieri\n \nM","year":"2023;"},{"key":"CIT0006","series-title":"Rheumatol Int","first-page":"95-100","article-title":"Contribution of Arab countries to familial Mediterranean fever research: A PubMed-based bibliometric analysis","volume":"42","author":"Masri\n \nDE","year":"2022;"},{"key":"CIT0007","series-title":"J Autoimmun","first-page":"102305","article-title":"Autoinflammation: Lessons from the study of familial Mediterranean fever","volume":"104","author":"Skendros\n \nP","year":"2019;"},{"key":"CIT0008","series-title":"Mol Biol Rep","first-page":"1835-43","article-title":"A comprehensive molecular analysis and genotype\u2013phenotype correlation in patients with familial mediterranean fever","volume":"47","author":"Balta\n \nB","year":"2020;"},{"key":"CIT0009","article-title":"Infevers","year":"2014"},{"key":"CIT0010","series-title":"Genetic disorders among Arab populations","first-page":"p. 455-72","article-title":"Genetic disorders in Morocco. In: Teebi AS, editor","author":"Sefiani\n \nA","year":"2010"},{"key":"CIT0011","series-title":"Rheumatol Int","first-page":"21-7","article-title":"Performance of Tel-Hashomer, Livneh, pediatric and new Eurofever\/PRINTO classification criteria for familial Mediterranean fever in a referral center","volume":"40","author":"Tanatar\n \nA","year":"2020;"},{"key":"CIT0012","series-title":"Nucleic Acids Res","first-page":"1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller\n \nSA","year":"1988;"},{"key":"CIT0013","series-title":"Gene","first-page":"9-13","article-title":"MEFV mutations and their relation to major clinical symptoms of familial Mediterranean fever","volume":"626","author":"Cekin\n \nN","year":"2017;"},{"key":"CIT0014","series-title":"Lancet","first-page":"1016-24","article-title":"Familial mediterranean fever in Arabs","volume":"367","author":"El-Shanti\n \nH","year":"2006;"},{"key":"CIT0015","series-title":"Mediterr J Rheumatol","first-page":"206","article-title":"Genotype mutations in Egyptian children with familial Mediterranean fever: Clinical profile, and response to colchicine","volume":"31","author":"Talaat\n \nHS","year":"2020;"},{"key":"CIT0016","series-title":"Semin Arthritis Rheum","first-page":"397-401","article-title":"MEFV mutations in Tunisian patients suffering from familial Mediterranean fever","volume":"36","author":"Chaabouni\n \nHB","year":"2007;"},{"key":"CIT0017","series-title":"Rheumatol Int","first-page":"489-96","article-title":"Familial Mediterranean fever","volume":"26","author":"Onen\n \nF","year":"2006;"},{"key":"CIT0018","series-title":"Turk J Nephrol","first-page":"68-74","article-title":"Evaluation of genotypic and phenotypic characteristics of children with familial Mediterranean fever in Eastern Turkey","volume":"28","author":"Kalem\n \nH","year":"2019;"},{"key":"CIT0019","series-title":"Intern Med","first-page":"1373-8","article-title":"Clinical and genetic analysis of 22 Japanese patients with familial Mediterranean fever: An examination of MEFV and 10 other genes related to autoinflammatory syndromes","volume":"59","author":"Fujimoto\n \nK","year":"2020;"},{"key":"CIT0020","series-title":"Rheumatol Int","first-page":"629-34","article-title":"Familial Mediterranean fever in Syrian children: Phenotype\u2013genotype correlation","volume":"35","author":"Jarjour\n \nRA","year":"2015;"},{"key":"CIT0021","series-title":"Front Immunol","first-page":"763","article-title":"Association of vasculitis and familial Mediterranean fever","volume":"10","author":"Abbara\n \nS","year":"2019;"},{"issue":"(3082):","key":"CIT0022","series-title":"Leban Med J","first-page":"1-5","article-title":"Henoch-Schonlein purpura in childhood a fifteen-year experience at a tertiary hospital","volume":"103","author":"Albaramki\n \nJ","year":"2016;"},{"key":"CIT0023","series-title":"Med Arch","first-page":"417","article-title":"Genetic profile of patients with familial Mediterranean fever (FMF): Single center experience at King Hussein medical center (KHMC)","volume":"69","author":"Habahbeh\n \nL","year":"2015;"},{"key":"CIT0024","series-title":"J Hum Genet","first-page":"389-93","article-title":"Genotype\u2013phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations","volume":"55","author":"Moradian\n \nMM","year":"2010;"},{"key":"CIT0025","series-title":"Klin Padiatr","first-page":"325-30","article-title":"Genotype-phenotype and genotype-origin correlations in children with Mediterranean fever in Germany \u2013 an AID-net study","volume":"225","author":"Jeske\n \nM","year":"2013;"},{"key":"CIT0026","series-title":"Rheumatology","first-page":"741-5","article-title":"Amyloidosis and its related factors in Turkish patients with familial Mediterranean fever: A multicentre study","volume":"53","author":"Kasifoglu\n \nT","year":"2014;"},{"key":"CIT0027","series-title":"Ann Hum Genet","first-page":"423-30","article-title":"Differential mutational profiles of familial Mediterranean fever in North Africa","volume":"84","author":"Ait-Idir\n \nD","year":"2020;"},{"key":"CIT0028","series-title":"Rheumatol Int","first-page":"981-4","article-title":"MEFV mutations in Moroccan patients suffering from familial Mediterranean fever","volume":"32","author":"Belmahi\n \nL","year":"2012;"},{"key":"CIT0029","series-title":"Rheumatology (Oxford)","first-page":"2306-10","article-title":"Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population","volume":"50","author":"Ait-Idir\n \nD","year":"2011;"},{"key":"CIT0030","series-title":"Orphanet J. Rare Dis","first-page":"167","article-title":"A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry","volume":"12","author":"Papa\n \nR","year":"2017;"},{"key":"CIT0031","series-title":"Genet Med","first-page":"1583-8","article-title":"Clinical and genetic heterogeneity in a large cohort of Armenian patients with late-onset familial Mediterranean fever","volume":"20","author":"Kriegsh\u00e4user\n \nG","year":"2018;"},{"key":"CIT0032","series-title":"Clin Chem","first-page":"525-36","article-title":"ISSAID\/EMQN best practice guidelines for the genetic diagnosis of monogenic autoinflammatory diseases in the next-generation sequencing era","volume":"66","author":"Shinar\n \nY","year":"2020;"},{"key":"CIT0033","series-title":"Comptes Rendus Biol","first-page":"71-4","article-title":"Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever","volume":"329","author":"Belmahi\n \nL","year":"2006;"},{"key":"CIT0034","series-title":"Lupus","first-page":"705-11","article-title":"Familial Mediterranean fever gene (MEFV) mutations and disease severity in systemic lupus erythematosus (SLE): Implications for the role of the E148Q MEFV allele in inflammation","volume":"24","author":"Deniz\n \nR","year":"2015;"},{"issue":"(6 Suppl. 94):","key":"CIT0035","series-title":"Clin Exp Rheumatol","first-page":"S19-23","article-title":"The carrier rate and spectrum of MEFV gene mutations in central and southeastern European populations","volume":"33","author":"Debeljak\n \nM","year":"2015;"},{"key":"CIT0036","series-title":"Best Pract Res Clin Rheumatol","first-page":"254-60","article-title":"Update on the epidemiology and disease outcome of familial Mediterranean fever","volume":"32","author":"\u00d6zen\n \nS","year":"2018;"},{"key":"CIT0037","series-title":"Ann Rheum Dis","first-page":"662-7","article-title":"Results from a multicentre international registry of familial Mediterranean fever: Impact of environment on the expression of a monogenic disease in children","volume":"73","author":"Ozen\n \nS","year":"2014;"},{"key":"CIT0038","series-title":"Rheumatology","first-page":"i4-11","article-title":"Update on colchicine, 2017","volume":"57","author":"Slobodnick\n \nA","year":"2018;"},{"key":"CIT0039","series-title":"Rheumatology (Oxford)","first-page":"1275-9","article-title":"Phenotype-genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of cutaneomucous features","volume":"39","author":"Kon\u00e9 Paut\n \nI","year":"2000;"},{"key":"CIT0040","series-title":"Eur J Hum Genet","first-page":"95-7","article-title":"Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF)","volume":"6","author":"Dewalle\n \nM","year":"1998;"},{"key":"CIT0041","series-title":"Int J Rheum Dis","first-page":"880-4","article-title":"Comparison of early versus late onset familial Mediterranean fever","volume":"21","author":"Yasar Bilge\n \nNS","year":"2018;"},{"key":"CIT0042","series-title":"J Med Cases","first-page":"351-4","article-title":"M680I\/M694V heterozygous mutation in early onset familial Mediterranean fever","volume":"12","author":"Darwish\n \nWM","year":"2021;"},{"key":"CIT0043","series-title":"Med Sci","first-page":"35","article-title":"Spectrum of MEFV variants and genotypes among clinically diagnosed FMF patients from Southern Lebanon","volume":"8","author":"El Roz\n \nA","year":"2020;"},{"key":"CIT0044","series-title":"Ann Rheum Dis","first-page":"455-61","article-title":"MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease","volume":"73","author":"Stoffels\n \nM","year":"2014;"},{"key":"CIT0045","series-title":"Front Microbiol","first-page":"456","article-title":"Update on pyrin functions and mechanisms of familial Mediterranean fever","volume":"7","author":"Manukyan\n \nG","year":"2016;"},{"key":"CIT0046","series-title":"Front Pediatr","first-page":"805919","article-title":"Real-Life data from the largest pediatric familial Mediterranean fever cohort","volume":"9","author":"\u00d6zt\u00fcrk\n \nK","year":"2022;"},{"key":"CIT0047","series-title":"Pan Afr Med J","first-page":"121","article-title":"Correlation genotype-phenotype: MEFV gene mutations and Moroccan patients with rheumatoid arthritis","volume":"41","author":"Missoum\n \nH","year":"2022;"}],"container-title":["Qatar Medical Journal"],"original-title":[],"link":[{"URL":"https:\/\/www.qscience.com\/view\/journals\/qmj\/2024\/3\/article-41.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.qscience.com\/downloadpdf\/journals\/qmj\/2024\/3\/article-41.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/www.qscience.com\/downloadpdf\/journals\/qmj\/2024\/3\/article-41.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T17:12:54Z","timestamp":1777309974000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.qscience.com\/view\/journals\/qmj\/2024\/3\/article-41.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024]]},"references-count":94,"journal-issue":{"issue":"3"},"URL":"https:\/\/doi.org\/10.5339\/qmj.2024.41","relation":{},"ISSN":["2227-0426"],"issn-type":[{"value":"2227-0426","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024]]}}}