{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T10:46:09Z","timestamp":1761734769236,"version":"build-2065373602"},"reference-count":17,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T00:00:00Z","timestamp":1667260800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2022,11]]},"DOI":"10.1016\/j.ejmg.2022.104576","type":"journal-article","created":{"date-parts":[[2022,9,2]],"date-time":"2022-09-02T02:45:16Z","timestamp":1662086716000},"page":"104576","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Early Onset Marfan Syndrome with multivalvular insufficiency: Report from a tertiary hospital in Tanzania, and a review of the recurrent c.7606G>A p.0 variant in FBN1"],"prefix":"10.1016","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2365-5072","authenticated-orcid":false,"given":"Ronald M.","family":"Mbwasi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Maugeri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helvi N.","family":"Joel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4582-2537","authenticated-orcid":false,"given":"Adnan","family":"Sadiq","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3102-5038","authenticated-orcid":false,"given":"Bilal","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7318-4344","authenticated-orcid":false,"given":"Ben CJ.","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.ejmg.2022.104576_bib1","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1002\/humu.1181","article-title":"Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome","volume":"18","author":"Comeglio","year":"2001","journal-title":"Hum. Mutat."},{"issue":"9","key":"10.1016\/j.ejmg.2022.104576_bib2","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/humu.9505","article-title":"The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations","volume":"28","author":"Comeglio","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2022.104576_bib3","series-title":"GeneReviews\u00ae [Internet]","first-page":"1993","article-title":"Marfan syndrome","author":"Dietz","year":"2001"},{"key":"10.1016\/j.ejmg.2022.104576_bib4","article-title":"Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD","volume":"5","author":"Guo","year":"2015","journal-title":"Sci. Rep."},{"issue":"2","key":"10.1016\/j.ejmg.2022.104576_bib5","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1089\/gte.2006.0514","article-title":"Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory","volume":"11","author":"Howarth","year":"2007","journal-title":"Genet. Test."},{"issue":"2","key":"10.1016\/j.ejmg.2022.104576_bib6","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.ymgme.2014.03.011","article-title":"The spectrum of FBN1, TGF\u03b2R1, TGF\u03b2R2 and ACTA2 variants in 594 individuals with suspected Marfan syndrome, Loeys-Dietz syndrome or thoracic aortic aneurysms and Dissections (TAAD)","volume":"112","author":"Lerner-Ellis","year":"2014","journal-title":"Mol. Genet. Metabol."},{"issue":"7","key":"10.1016\/j.ejmg.2022.104576_bib7","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1136\/jmg.2009.072785","article-title":"The revised Ghent nosology for the Marfan syndrome","volume":"47","author":"Loeys","year":"2010","journal-title":"J. Med. Genet."},{"issue":"8","key":"10.1016\/j.ejmg.2022.104576_bib8","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1002\/humu.22802","article-title":"Performant mutation identification using targeted next-generation sequencing of 14 thoracic aortic Aneurysm genes","volume":"36","author":"Proost","year":"2015","journal-title":"Hum. Mutat."},{"issue":"3","key":"10.1016\/j.ejmg.2022.104576_bib9","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1111\/j.1399-0004.2011.01781.x","article-title":"Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities","volume":"82","author":"Robinson","year":"2012","journal-title":"Clin. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2022.104576_bib10","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1002\/humu.20239","article-title":"Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome","volume":"26","author":"Rommel","year":"2005","journal-title":"Hum. Mutat."},{"issue":"24","key":"10.1016\/j.ejmg.2022.104576_bib11","doi-asserted-by":"crossref","first-page":"3157","DOI":"10.1002\/ajmg.a.32595","article-title":"The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome","volume":"146A","author":"Rybczynski","year":"2008","journal-title":"Am. J. Med. Genet. A."},{"issue":"1","key":"10.1016\/j.ejmg.2022.104576_bib12","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.gene.2016.07.033","article-title":"FBN1: the disease-causing gene for Marfan syndrome and other genetic disorders","volume":"592","author":"Sakai","year":"2016","journal-title":"Gene"},{"issue":"7","key":"10.1016\/j.ejmg.2022.104576_bib13","first-page":"812","article-title":"[Clinical and genetic characteristics of Russian Marfan patients]. [Article in Russian]","volume":"51","author":"Semyachkina","year":"2015","journal-title":"Genetika"},{"issue":"3","key":"10.1016\/j.ejmg.2022.104576_bib14","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1203\/PDR.0b013e3182097219","article-title":"Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year","volume":"69","author":"Stheneur","year":"2011","journal-title":"Pediatr. Res."},{"issue":"5","key":"10.1016\/j.ejmg.2022.104576_bib15","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1007\/s00246-006-0066-4","article-title":"Quadrivalvar replacement in infantile Marfan syndrome","volume":"28","author":"Strig","year":"2007","journal-title":"Pediatr. Cardiol."},{"issue":"14","key":"10.1016\/j.ejmg.2022.104576_bib16","doi-asserted-by":"crossref","first-page":"2493","DOI":"10.1080\/14767058.2018.1552935","article-title":"Perinatal diagnosis and management of early-onset Marfan syndrome: case report and systematic review","volume":"33","author":"Veiga-Fern\u00e1ndez","year":"2020","journal-title":"J. Matern. Neonatal. Med."},{"key":"10.1016\/j.ejmg.2022.104576_bib17","article-title":"Genetic testing of 248 Chinese aortopathy patients using a panel assay. Genetic testing of 248 Chinese aortopathy patients using a panel assay","volume":"6","author":"Yang","year":"2016","journal-title":"Sci. Rep."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721222001574?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721222001574?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:53:58Z","timestamp":1761710038000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721222001574"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11]]},"references-count":17,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2022,11]]}},"alternative-id":["S1769721222001574"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2022.104576","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2022,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Early Onset Marfan Syndrome with multivalvular insufficiency: Report from a tertiary hospital in Tanzania, and a review of the recurrent c.7606G>A p.0 variant in FBN1","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2022.104576","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104576"}}