{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T18:24:00Z","timestamp":1793125440881,"version":"4.5.0"},"reference-count":145,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T00:00:00Z","timestamp":1660608000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>Marfan syndrome (MFS, OMIM: 154700) is a heritable multisystemic disease characterized by a wide range of clinical manifestations. The underlying molecular defect is caused by variants in the <jats:italic>FBN1<\/jats:italic>. Meanwhile, <jats:italic>FBN1<\/jats:italic> variants are also detected in a spectrum of connective tissue disorders collectively termed as \u2018type I fibrillinopathies\u2019. A multitude of <jats:italic>FBN1<\/jats:italic> variants is reported and most of them are unique in each pedigree. Although MFS is being considered a monogenic disorder, it is speculated that the allelic heterogeneity of <jats:italic>FBN1<\/jats:italic> variants contributes to various manifestations, distinct prognoses, and differential responses to the therapies in affected patients. Significant progress in the genotype\u2013phenotype correlations of MFS have emerged in the last 20 years, though, some of the associations were still in debate. This review aims to update the recent advances in the genotype-phenotype correlations of MFS and related fibrillinopathies. The molecular bases and pathological mechanisms are summarized for better support of the observed correlations. Other factors contributing to the phenotype heterogeneity and future research directions were also discussed. Dissecting the genotype-phenotype correlation of <jats:italic>FBN1<\/jats:italic> variants and related disorders will provide valuable information in risk stratification, prognosis, and choice of therapy.<\/jats:p>","DOI":"10.3389\/fgene.2022.943083","type":"journal-article","created":{"date-parts":[[2022,9,13]],"date-time":"2022-09-13T15:16:47Z","timestamp":1663082207000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":22,"title":["Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance"],"prefix":"10.3389","volume":"13","author":[{"given":"Ze-Xu","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wan-Nan","family":"Jia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong-Xiang","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,8,16]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1172\/JCI117298","article-title":"Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms","volume":"94","author":"Aoyama","year":"1994","journal-title":"J. Clin. Investig."},{"key":"B2","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1002\/ajmg.1320580216","article-title":"Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders","volume":"58","author":"Aoyama","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"B3","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1136\/jmedgenet-2016-103996","article-title":"Homozygous and compound heterozygous mutations in the FBN1 gene: Unexpected findings in molecular diagnosis of marfan syndrome","volume":"54","author":"Arnaud","year":"2017","journal-title":"J. Med. Genet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"1296","DOI":"10.1038\/s41436-021-01132-x","article-title":"Clinical relevance of genotype-phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants","volume":"23","author":"Arnaud","year":"2021","journal-title":"Genet. Med."},{"key":"B5","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1038\/s41436-020-01078-6","article-title":"Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome","volume":"23","author":"Arnaud","year":"2021","journal-title":"Genet. Med."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1759","DOI":"10.1038\/s41431-018-0164-9","article-title":"Association of modifiers and other genetic factors explain Marfan syndrome clinical variability","volume":"26","author":"Aubart","year":"2018","journal-title":"Eur. J. Hum. Genet."},{"key":"B7","doi-asserted-by":"publisher","first-page":"2764","DOI":"10.1093\/hmg\/ddv037","article-title":"The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele","volume":"24","author":"Aubart","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"B8","doi-asserted-by":"publisher","first-page":"e81281","DOI":"10.1371\/journal.pone.0081281","article-title":"Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations","volume":"8","author":"Aydin","year":"2013","journal-title":"Plos One"},{"key":"B9","first-page":"100902","article-title":"Zinn's zonule","author":"Bassnett","year":"2020","journal-title":"Prog. Retin Eye Res."},{"key":"B10","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1038\/jhg.2015.10","article-title":"Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants","volume":"60","author":"Baudhuin","year":"2015","journal-title":"J. Hum. Genet."},{"key":"B11","doi-asserted-by":"publisher","first-page":"1383","DOI":"10.1242\/jcs.003954","article-title":"Cell adhesion to fibrillin-1: Identification of an arg-gly-asp-dependent synergy region and a heparin-binding site that regulates focal adhesion formation","volume":"120","author":"Bax","year":"2007","journal-title":"J. Cell. Sci."},{"key":"B12","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1186\/s13023-017-0754-6","article-title":"The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome","volume":"13","author":"Becerra-Mu\u00f1oz","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"key":"B13","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1002\/humu.9207","article-title":"Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy","volume":"23","author":"Biggin","year":"2004","journal-title":"Hum. Mutat."},{"key":"B14","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1007\/s004390000368","article-title":"Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments","volume":"107","author":"Booms","year":"2000","journal-title":"Hum. Genet."},{"key":"B15","doi-asserted-by":"publisher","first-page":"2286","DOI":"10.1093\/hmg\/ddab190","article-title":"Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1","volume":"30","author":"Burger","year":"2021","journal-title":"Hum. Mol. Genet."},{"key":"B16","doi-asserted-by":"publisher","first-page":"2715","DOI":"10.1074\/mcp.M900008-MCP200","article-title":"Defining elastic fiber interactions by molecular fishing: An affinity purification and mass spectrometry approach","volume":"8","author":"Cain","year":"2009","journal-title":"Mol. Cell. Proteomics"},{"key":"B17","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1002\/pmic.200401340","article-title":"Proteomic analysis of fibrillin-rich microfibrils","volume":"6","author":"Cain","year":"2006","journal-title":"Proteomics"},{"key":"B18","doi-asserted-by":"publisher","first-page":"35956","DOI":"10.1038\/srep35956","article-title":"ADAMTS-10 and -6 differentially regulate cell-cell junctions and focal adhesions","volume":"6","author":"Cain","year":"2016","journal-title":"Sci. Rep."},{"key":"B19","doi-asserted-by":"publisher","first-page":"e82","DOI":"10.1111\/aos.12175","article-title":"Prevalence of ectopia lentis and retinal detachment in Marfan syndrome","volume":"92","author":"Chandra","year":"2014","journal-title":"Acta Ophthalmol."},{"key":"B20","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1083\/jcb.200608167","article-title":"Fibrillin-1 regulates the bioavailability of TGFbeta1","volume":"176","author":"Chaudhry","year":"2007","journal-title":"J. Cell. Biol."},{"key":"B21","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1159\/000517384","article-title":"Analysis of axial length in young patients with marfan syndrome and bilateral ectopia lentis by Z-scores","volume":"64","author":"Chen","year":"","journal-title":"Ophthalmic Res."},{"key":"B22","first-page":"2021","article-title":"Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: Spectrum and genotype\u2013phenotype analysis","author":"Chen","year":"","journal-title":"Brit J. Ophthalmol."},{"key":"B23","doi-asserted-by":"publisher","first-page":"869539","DOI":"10.3389\/fmed.2022.869539","article-title":"Phacoemulsification combined with supra-capsular and scleral-fixated intraocular lens implantation in microspherophakia: A retrospective comparative study","volume":"9","author":"Chen","year":"2022","journal-title":"Front. Med."},{"key":"B24","doi-asserted-by":"publisher","first-page":"1637","DOI":"10.1002\/humu.24283","article-title":"Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies","volume":"42","author":"Chen","year":"","journal-title":"Hum. Mutat."},{"key":"B25","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1016\/j.ejmg.2017.11.018","article-title":"A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia","volume":"61","author":"Cheng","year":"2018","journal-title":"Eur. J. Med. Genet."},{"key":"B26","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1002\/humu.10249","article-title":"Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database","volume":"22","author":"Collod-B\u00e9roud","year":"2003","journal-title":"Hum. Mutat."},{"key":"B27","doi-asserted-by":"publisher","first-page":"928","DOI":"10.1002\/humu.9505","article-title":"The importance of mutation detection in marfan syndrome and marfan-related disorders: Report of 193FBN1 mutations","volume":"28","author":"Comeglio","year":"2007","journal-title":"Hum. Mutat."},{"key":"B28","doi-asserted-by":"publisher","first-page":"911","DOI":"10.1161\/ATVBAHA.114.305150","article-title":"Dimorphic effects of transforming growth factor-\u03b2 signaling during aortic aneurysm progression in mice suggest a combinatorial therapy for Marfan syndrome","volume":"35","author":"Cook","year":"2015","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"B29","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1111\/j.1399-0004.2007.00845.x","article-title":"Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome","volume":"72","author":"De Backer","year":"2007","journal-title":"Clin. Genet."},{"key":"B145","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R","article-title":"Revised diagnostic criteria for the Marfan syndrome","volume":"62","author":"De Paepe","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"B30","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1007\/s12471-016-0905-8","article-title":"The effect of losartan therapy on ventricular function in Marfan patients with haploinsufficient or dominant negative FBN1 mutations","volume":"24","author":"den Hartog","year":"2016","journal-title":"Neth. Heart J."},{"key":"B31","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1016\/s0092-8674(00)81259-3","article-title":"Solution structure of a pair of calcium-binding epidermal growth factor-like domains: Implications for the marfan syndrome and other genetic disorders","volume":"85","author":"Downing","year":"1996","journal-title":"Cell."},{"key":"B32","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1111\/aos.12448","article-title":"Ocular findings in 87 adults with Ghent-1 verified Marfan syndrome","volume":"93","author":"Drolsum","year":"2015","journal-title":"Acta Ophthalmol."},{"key":"B33","doi-asserted-by":"publisher","first-page":"2752","DOI":"10.7150\/ijms.60685","article-title":"The molecular genetics of marfan syndrome","volume":"18","author":"Du","year":"2021","journal-title":"Int. J. Med. Sci."},{"key":"B34","doi-asserted-by":"publisher","first-page":"1444","DOI":"10.1038\/nm.4432","article-title":"Asprosin is a centrally acting orexigenic hormone","volume":"23","author":"Duerrschmid","year":"2017","journal-title":"Nat. Med."},{"key":"B35","doi-asserted-by":"publisher","first-page":"5117","DOI":"10.1074\/jbc.RA117.001483","article-title":"Structural and compositional diversity of fibrillin microfibrils in human tissues","volume":"293","author":"Eckersley","year":"2018","journal-title":"J. Biol. Chem."},{"key":"B36","doi-asserted-by":"publisher","first-page":"2873","DOI":"10.1093\/eurheartj\/ehu281","article-title":"2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).","volume":"35","author":"Erbel","year":"20142014","journal-title":"Eur. Heart J."},{"key":"B37","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1111\/j.1399-0004.2011.01703.x","article-title":"The new ghent criteria for marfan syndrome: What do they change?","volume":"81","author":"Faivre","year":"2012","journal-title":"Clin. Genet."},{"key":"B38","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1038\/ejhg.2008.207","article-title":"Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation","volume":"17","author":"Faivre","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"key":"B39","doi-asserted-by":"publisher","first-page":"854","DOI":"10.1002\/ajmg.a.32809","article-title":"Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion","author":"Faivre","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"B40","doi-asserted-by":"publisher","first-page":"384","DOI":"10.1136\/jmg.2007.056382","article-title":"Contribution of molecular analyses in diagnosing marfan syndrome and type I fibrillinopathies: An international study of 1009 probands","volume":"45","author":"Faivre","year":"2008","journal-title":"J. Med. Genet."},{"key":"B41","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1086\/520125","article-title":"Effect of mutation type and location on clinical outcome in 1, 013 probands with marfan syndrome or related phenotypes and FBN1 mutations: An international study","volume":"81","author":"Faivre","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"B42","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1542\/peds.2008-0703","article-title":"Clinical and molecular study of 320 children with marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations","volume":"123","author":"Faivre","year":"2009","journal-title":"Pediatr. Evanst."},{"key":"B43","doi-asserted-by":"publisher","first-page":"1338","DOI":"10.1136\/bjophthalmol-2013-304144","article-title":"Risk factors for postoperative complications in lensectomy\u2013vitrectomy with or without intraocular lens placement in ectopia lentis associated with Marfan syndrome","volume":"98","author":"Fan","year":"2014","journal-title":"Br. J. Ophthalmol."},{"key":"B44","doi-asserted-by":"publisher","first-page":"1601","DOI":"10.1001\/archopht.1977.04450090123010","article-title":"Ultrastructural abnormalities in a Marfan's syndrome lens","volume":"95","author":"Farnsworth","year":"1977","journal-title":"Arch. Ophthalmol."},{"key":"B45","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1161\/CIRCGENETICS.114.000950","article-title":"Beneficial outcome of losartan therapy Depends on type of FBN1 mutation in marfan syndrome","volume":"8","author":"Franken","year":"2015","journal-title":"Circ. Cardiovasc. Genet."},{"key":"B46","doi-asserted-by":"publisher","first-page":"3285","DOI":"10.1093\/eurheartj\/ehv739","article-title":"Genotype impacts survival in Marfan syndrome","volume":"37","author":"Franken","year":"2016","journal-title":"Eur. Heart J."},{"key":"B47","doi-asserted-by":"publisher","first-page":"1795","DOI":"10.1136\/heartjnl-2016-310631","article-title":"Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome","volume":"103","author":"Franken","year":"2017","journal-title":"Heart"},{"key":"B48","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1093\/ejcts\/ezab317","article-title":"Results of a prospective follow-up study after type A aortic dissection repair: A high rate of distal aneurysmal evolution and reinterventions","volume":"61","author":"Gaudry","year":"2021","journal-title":"Eur. J. Cardiothorac. Surg."},{"key":"B49","first-page":"233","article-title":"Morphological and morphochemical properties of the elastic system in the motor organ of man","volume":"3","author":"Gawlik","year":"1965","journal-title":"Folia histochem. cytochem."},{"key":"B50","doi-asserted-by":"publisher","first-page":"e0222506","DOI":"10.1371\/journal.pone.0222506","article-title":"NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis","volume":"14","author":"Gentilini","year":"2019","journal-title":"Plos One"},{"key":"B51","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1002\/ajmg.a.33906","article-title":"Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene","author":"Goldblatt","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"key":"B52","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1038\/ng.3723","article-title":"An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death","volume":"49","author":"Granata","year":"2017","journal-title":"Nat. Genet."},{"key":"B53","doi-asserted-by":"publisher","first-page":"2749","DOI":"10.1002\/ajmg.a.33690","article-title":"Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene","author":"Graul-Neumann","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"B54","doi-asserted-by":"publisher","first-page":"3491","DOI":"10.1093\/eurheartj\/eht334","article-title":"Losartan reduces aortic dilatation rate in adults with marfan syndrome: A randomized controlled trial","volume":"34","author":"Groenink","year":"2013","journal-title":"Eur. Heart J."},{"key":"B55","doi-asserted-by":"publisher","first-page":"772","DOI":"10.1038\/gim.2016.181","article-title":"Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases","volume":"19","author":"Groth","year":"2017","journal-title":"Genet. Med."},{"key":"B56","doi-asserted-by":"publisher","first-page":"108570","DOI":"10.1016\/j.exer.2021.108570","article-title":"Mutation spectrum and genotype-phenotype correlations in Chinese congenital ectopia lentis patients","volume":"207","author":"Guo","year":"2021","journal-title":"Exp. Eye Res."},{"key":"B57","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1126\/science.1192152","article-title":"Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism","volume":"332","author":"Habashi","year":"2011","journal-title":"Science"},{"key":"B58","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1126\/science.1124287","article-title":"Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome","volume":"312","author":"Habashi","year":"2006","journal-title":"Science"},{"key":"B59","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1002\/(SICI)1098-1004(1997)10:6<415::AID-HUMU1>3.0.CO;2-C","article-title":"Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies","volume":"10","author":"Hayward","year":"1997","journal-title":"Hum. Mutat."},{"key":"B60","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/ajmg.a.30979","article-title":"Severe infantile Marfan syndrome versus neonatal Marfan syndrome","volume":"139","author":"Hennekam","year":"2005","journal-title":"Am. J. Med. Genet. A"},{"key":"B61","doi-asserted-by":"publisher","first-page":"997","DOI":"10.1016\/j.ajo.2008.01.028","article-title":"The value of keratometry and central corneal thickness measurements in the clinical diagnosis of marfan syndrome","volume":"145","author":"Heur","year":"2008","journal-title":"Am. J. Ophthalmol."},{"key":"B62","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1016\/j.matbio.2006.12.006","article-title":"LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein","volume":"26","author":"Hirani","year":"2007","journal-title":"Matrix Biol."},{"key":"B63","doi-asserted-by":"publisher","first-page":"e266","DOI":"10.1161\/CIR.0b013e3181d4739e","article-title":"2010 ACCF\/AHA\/AATS\/ACR\/ASA\/SCA\/SCAI\/SIR\/STS\/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease: A report of the American college of cardiology foundation\/American heart association task force on practice guidelines, American association for thoracic surgery, American college of radiology, American stroke association, society of cardiovascular anesthesiologists, society for cardiovascular angiography and interventions, society of interventional radiology, society of thoracic surgeons, and society for vascular medicine","volume":"121","author":"Hiratzka","year":"20102010","journal-title":"Circulation"},{"key":"B64","doi-asserted-by":"publisher","first-page":"721","DOI":"10.1002\/ajmg.a.33905","article-title":"Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene","author":"Horn","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"key":"B65","doi-asserted-by":"publisher","first-page":"857095","DOI":"10.3389\/fgene.2022.857095","article-title":"Functional analysis of an intronic FBN1 pathogenic gene variant in a family with marfan syndrome","volume":"13","author":"Hu","year":"2022","journal-title":"Front. Genet."},{"key":"B66","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1016\/j.ejmg.2014.02.012","article-title":"Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene","volume":"57","author":"Jacquinet","year":"2014","journal-title":"Eur. J. Med. Genet."},{"key":"B67","doi-asserted-by":"publisher","first-page":"4454","DOI":"10.1093\/hmg\/ddv181","article-title":"A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias","volume":"24","author":"Jensen","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"B68","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1016\/j.str.2011.12.008","article-title":"Dissecting the fibrillin microfibril: Structural insights into organization and function","volume":"20","author":"Jensen","year":"2012","journal-title":"Structure"},{"key":"B69","doi-asserted-by":"publisher","first-page":"1965","DOI":"10.1016\/S0140-6736(05)67789-6","article-title":"Marfan's syndrome","volume":"366","author":"Judge","year":"2005","journal-title":"Lancet"},{"key":"B70","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1001\/jamapsychiatry.2020.0196","article-title":"Transcriptomic landscape and functional characterization of induced pluripotent stem cell-derived cerebral organoids in schizophrenia","volume":"77","author":"Kathuria","year":"2020","journal-title":"JAMA Psychiatry"},{"key":"B71","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1016\/S0065-3233(05)70012-7","article-title":"Fibrillin microfibrils","volume":"70","author":"Kielty","year":"2005","journal-title":"Adv. Protein Chem."},{"key":"B72","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1111\/j.1755-3768.2010.01996.x","article-title":"Corneal curvature, pachymetry, and endothelial cell density in Marfan syndrome","volume":"90","author":"Konradsen","year":"2012","journal-title":"Acta Ophthalmol."},{"key":"B73","doi-asserted-by":"publisher","first-page":"751","DOI":"10.1111\/aos.12068","article-title":"A descriptive study of ocular characteristics in Marfan syndrome","volume":"91","author":"Konradsen","year":"2013","journal-title":"Acta Ophthalmol."},{"key":"B74","doi-asserted-by":"publisher","first-page":"953","DOI":"10.1016\/j.ijcard.2012.10.044","article-title":"FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression","volume":"168","author":"K\u00fchne","year":"2013","journal-title":"Int. J. Cardiol."},{"key":"B75","doi-asserted-by":"publisher","first-page":"3920","DOI":"10.1167\/iovs.19-26893","article-title":"Lens stretching modulates lens epithelial cell proliferation via YAP regulation","volume":"60","author":"Kumar","year":"2019","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"B76","doi-asserted-by":"publisher","first-page":"17156","DOI":"10.1074\/jbc.M111.231571","article-title":"ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts","volume":"286","author":"Kutz","year":"2011","journal-title":"J. Biol. Chem."},{"key":"B77","doi-asserted-by":"publisher","first-page":"2061","DOI":"10.1056\/NEJMoa1404731","article-title":"Atenolol versus losartan in children and young adults with Marfan's syndrome","volume":"371","author":"Lacro","year":"2014","journal-title":"N. Engl. J. Med."},{"key":"B78","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1016\/j.ajhg.2011.05.012","article-title":"Mutations in the TGF\u03b2 binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias","volume":"89","author":"Le Goff","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"B79","doi-asserted-by":"publisher","first-page":"1630","DOI":"10.1007\/s11427-018-9491-8","article-title":"Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease","volume":"62","author":"Li","year":"2019","journal-title":"Sci. China. Life Sci."},{"key":"B80","doi-asserted-by":"publisher","first-page":"728","DOI":"10.1161\/CIRCRESAHA.121.320381","article-title":"Inhibition of IL11 signaling reduces aortic pathology in murine marfan syndrome","volume":"130","author":"Lim","year":"2022","journal-title":"Circ. Res."},{"key":"B81","doi-asserted-by":"publisher","first-page":"e1023","DOI":"10.1002\/mgg3.1023","article-title":"Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1","volume":"8","author":"Lin","year":"2020","journal-title":"Mol. Genet. Genomic Med."},{"key":"B82","doi-asserted-by":"publisher","first-page":"922","DOI":"10.1038\/ng.2349","article-title":"Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm","volume":"44","author":"Lindsay","year":"2012","journal-title":"Nat. Genet."},{"key":"B83","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1186\/1471-2350-2-11","article-title":"Multi-exon deletions of the FBN1 gene in Marfan syndrome","volume":"2","author":"Liu","year":"2001","journal-title":"BMC Med. Genet."},{"key":"B84","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1002\/humu.20070","article-title":"Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome","volume":"24","author":"Loeys","year":"2004","journal-title":"Hum. Mutat."},{"key":"B85","doi-asserted-by":"publisher","first-page":"3291","DOI":"10.1093\/eurheartj\/ehw154","article-title":"The search for genotype\/phenotype correlation in marfan syndrome: To be or not to be?","volume":"37","author":"Loeys","year":"2016","journal-title":"Eur. Heart J."},{"key":"B86","doi-asserted-by":"publisher","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."},{"key":"B87","doi-asserted-by":"publisher","first-page":"23ra20","DOI":"10.1126\/scitranslmed.3000488","article-title":"Mutations in fibrillin-1 cause congenital scleroderma: Stiff skin syndrome","volume":"2","author":"Loeys","year":"2010","journal-title":"Sci. Transl. Med."},{"key":"B88","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1016\/j.jsb.2006.03.021","article-title":"Tissue specific differences in fibrillin microfibrils analysed using single particle image analysis","volume":"155","author":"Lu","year":"2006","journal-title":"J. Struct. Biol."},{"key":"B89","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1038\/nrm4063","article-title":"Nonsense-mediated mRNA decay: An intricate machinery that shapes transcriptomes","volume":"16","author":"Lykke-Andersen","year":"2015","journal-title":"Nat. Rev. Mol. Cell. Biol."},{"key":"B90","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1038\/s41436-020-00994-x","article-title":"Geleophysic and acromicric dysplasias: Natural history, genotype-phenotype correlations, and management guidelines from 38 cases","volume":"23","author":"Marzin","year":"2021","journal-title":"Genet. Med."},{"key":"B91","doi-asserted-by":"publisher","first-page":"1045","DOI":"10.1016\/j.gim.2021.12.015","article-title":"Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort","volume":"24","author":"Meester","year":"2022","journal-title":"Genet. Med."},{"key":"B92","doi-asserted-by":"publisher","first-page":"582","DOI":"10.21037\/acs.2017.11.03","article-title":"Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome","volume":"6","author":"Meester","year":"2017","journal-title":"Ann. Cardiothorac. Surg."},{"key":"B93","doi-asserted-by":"publisher","first-page":"2160","DOI":"10.1093\/eurheartj\/ehv151","article-title":"Marfan sartan: A randomized, double-blind, placebo-controlled trial","volume":"36","author":"Milleron","year":"2015","journal-title":"Eur. Heart J."},{"key":"B94","doi-asserted-by":"publisher","first-page":"1703","DOI":"10.1086\/302144","article-title":"Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome","volume":"63","author":"Montgomery","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"B95","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1007\/s12079-020-00566-3","article-title":"Fibrillin-1 and fibrillin-1-derived asprosin in adipose tissue function and metabolic disorders","volume":"14","author":"Muthu","year":"2020","journal-title":"J. Cell. Commun. Signal."},{"key":"B96","doi-asserted-by":"publisher","first-page":"I329","DOI":"10.1161\/01.cir.0000087660.82721.15","article-title":"Abnormal extracellular matrix protein transport associated with increased apoptosis of vascular smooth muscle cells in marfan syndrome and bicuspid aortic valve thoracic aortic aneurysm","volume":"108","author":"Nataatmadja","year":"2003","journal-title":"Circulation"},{"key":"B97","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1016\/j.ajhg.2017.03.005","article-title":"Modeling the mutational and phenotypic landscapes of pelizaeus-merzbacher disease with human iPSC-derived oligodendrocytes","volume":"100","author":"Nevin","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"B98","doi-asserted-by":"publisher","first-page":"2551","DOI":"10.1002\/ajmg.a.38353","article-title":"Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome","volume":"173","author":"Newell","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"key":"B99","doi-asserted-by":"publisher","first-page":"16872","DOI":"10.1074\/jbc.M809348200","article-title":"Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites","volume":"284","author":"Ono","year":"2009","journal-title":"J. Biol. Chem."},{"key":"B100","doi-asserted-by":"publisher","first-page":"588","DOI":"10.7150\/ijbs.19517","article-title":"Recapitulating and correcting marfan syndrome in a cellular model","volume":"13","author":"Park","year":"2017","journal-title":"Int. J. Biol. Sci."},{"key":"B101","doi-asserted-by":"publisher","first-page":"1244","DOI":"10.1038\/ejhg.2016.6","article-title":"Marfanoid-progeroid-lipodystrophy syndrome: A newly recognized fibrillinopathy","volume":"24","author":"Passarge","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"key":"B102","first-page":"87","article-title":"Ocular pathology in bovine Marfan's syndrome with demonstration of altered fibrillin immunoreactivity in explanted ciliary body cells","volume":"75","author":"Pessier","year":"1996","journal-title":"Lab. Investig."},{"key":"B103","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<233::AID-AJMG7>3.0.CO;2-U","article-title":"Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene","volume":"62","author":"Putnam","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"B104","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1073\/pnas.1113442109","article-title":"Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cells","volume":"109","author":"Quarto","year":"2012","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B105","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1007\/s00441-009-0822-x","article-title":"Biogenesis and function of fibrillin assemblies","volume":"339","author":"Ramirez","year":"2010","journal-title":"Cell. Tissue Res."},{"key":"B106","doi-asserted-by":"publisher","first-page":"12339","DOI":"10.1074\/jbc.275.16.12339","article-title":"Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome","volume":"275","author":"Reinhardt","year":"2000","journal-title":"J. Biol. Chem."},{"key":"B107","doi-asserted-by":"publisher","first-page":"19489","DOI":"10.1074\/jbc.271.32.19489","article-title":"Fibrillin-1 and fibulin-2 interact and are colocalized in some tissues","volume":"271","author":"Reinhardt","year":"1996","journal-title":"J. Biol. Chem."},{"key":"B108","doi-asserted-by":"publisher","first-page":"854","DOI":"10.1016\/j.jacc.2019.12.042","article-title":"Aortic dissection risk in marfan syndrome","volume":"75","author":"Roman","year":"2020","journal-title":"J. Am. Coll. Cardiol."},{"key":"B109","doi-asserted-by":"publisher","first-page":"566","DOI":"10.1016\/j.cell.2016.02.063","article-title":"Asprosin, a fasting-induced glucogenic protein hormone","volume":"165","author":"Romere","year":"2016","journal-title":"Cell."},{"key":"B110","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1016\/j.cub.2004.02.063","article-title":"Exon junction sequences as cryptic splice sites: Implications for intron origin","volume":"14","author":"Sadusky","year":"2004","journal-title":"Curr. Biol."},{"key":"B111","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1016\/j.matbio.2018.09.005","article-title":"Fibrillin protein pleiotropy: Acromelic dysplasias","volume":"80","author":"Sakai","year":"2019","journal-title":"Matrix Biol."},{"key":"B112","doi-asserted-by":"publisher","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":"591","author":"Sakai","year":"2016","journal-title":"Gene"},{"key":"B113","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1097\/HJH.0000000000001512","article-title":"Aortic dilatation in marfan syndrome: Role of arterial stiffness and fibrillin-1 variants","volume":"36","author":"Salvi","year":"2018","journal-title":"J. Hypertens."},{"key":"B114","doi-asserted-by":"publisher","first-page":"1213","DOI":"10.3892\/ijmm.2017.3343","article-title":"Structural and functional failure of fibrillin-1 in human diseases (Review)","volume":"41","author":"Schrenk","year":"2018","journal-title":"Int. J. Mol. Med."},{"key":"B115","doi-asserted-by":"publisher","first-page":"1007","DOI":"10.1086\/302582","article-title":"Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: Distinct effects on biochemical and clinical phenotypes","volume":"65","author":"Schrijver","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"B116","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1086\/341581","article-title":"Premature termination mutations in FBN1: Distinct effects on differential allelic expression and on protein and clinical phenotypes","volume":"71","author":"Schrijver","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"B117","doi-asserted-by":"publisher","first-page":"e1002425","DOI":"10.1371\/journal.pgen.1002425","article-title":"Microenvironmental regulation by fibrillin-1","volume":"8","author":"Sengle","year":"2012","journal-title":"PLoS Genet."},{"key":"B118","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1042\/EBC20180052","article-title":"Recent updates on the molecular network of elastic fiber formation","volume":"63","author":"Shin","year":"2019","journal-title":"Essays Biochem."},{"key":"B119","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/j.bbadis.2018.10.029","article-title":"A FBN1 3'UTR mutation variant is associated with endoplasmic reticulum stress in aortic aneurysm in Marfan syndrome","volume":"1865","author":"Siegert","year":"2019","journal-title":"Biochim. Biophys. Acta. Mol. Basis Dis."},{"key":"B120","doi-asserted-by":"publisher","first-page":"661","DOI":"10.1006\/jmbi.1998.2536","article-title":"EGF-like domain calcium affinity modulated by N-terminal domain linkage in human fibrillin-1","volume":"286","author":"Smallridge","year":"1999","journal-title":"J. Mol. Biol."},{"key":"B121","doi-asserted-by":"publisher","first-page":"867","DOI":"10.2106\/00004623-199506000-00007","article-title":"The thoracolumbar spine in Marfan syndrome","volume":"77","author":"Sponseller","year":"1995","journal-title":"J. Bone Jt. Surg. Am."},{"key":"B122","doi-asserted-by":"publisher","first-page":"E799","DOI":"10.3390\/genes11070799","article-title":"Genotype-phenotype correlation in children: The impact of FBN1 variants on pediatric marfan care","volume":"11","author":"Stark","year":"2020","journal-title":"Genes."},{"key":"B123","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1186\/s13023-021-01882-6","article-title":"Potential predictors of severe cardiovascular involvement in marfan syndrome: The emphasized role of genotype-phenotype correlations in improving risk stratification-a literature review","volume":"16","author":"Stengl","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"B124","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1186\/s13023-020-01569-4","article-title":"Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement","volume":"15","author":"Stengl","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"B125","doi-asserted-by":"publisher","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."},{"key":"B126","doi-asserted-by":"publisher","first-page":"51258","DOI":"10.1074\/jbc.M408156200","article-title":"Structural consequences of cysteine substitutions C1977Y and C1977R in calcium-binding epidermal growth factor-like domain 30 of human fibrillin-1","volume":"279","author":"Suk","year":"2004","journal-title":"J. Biol. Chem."},{"key":"B127","doi-asserted-by":"publisher","first-page":"e002058","DOI":"10.1161\/CIRCGEN.117.002058","article-title":"Impact of pathogenic FBN1 variant types on the progression of aortic disease in patients with marfan syndrome","volume":"11","author":"Takeda","year":"2018","journal-title":"Circ. Genom. Precis. Med."},{"key":"B128","doi-asserted-by":"publisher","first-page":"3057","DOI":"10.1002\/ajmg.a.36157","article-title":"Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype","author":"Takenouchi","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"key":"B129","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2021-108186","article-title":"Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome","author":"Taniguchi","year":"2021","journal-title":"J. Med. Genet."},{"key":"B130","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1016\/j.semcdb.2018.07.016","article-title":"Fibrillin microfibrils and elastic fibre proteins: Functional interactions and extracellular regulation of growth factors","volume":"89","author":"Thomson","year":"2019","journal-title":"Semin. Cell. Dev. Biol."},{"key":"B131","doi-asserted-by":"publisher","first-page":"11404","DOI":"10.1074\/jbc.M409882200","article-title":"Microfibrils at basement membrane zones interact with perlecan via fibrillin-1","volume":"280","author":"Tiedemann","year":"2005","journal-title":"J. Biol. Chem."},{"key":"B132","first-page":"161","article-title":"\u00dcber zwei F\u00e4lle von Arachnodaktylie","author":"\u00dcber zwei","year":"1914","journal-title":"Z Kinderheilkd"},{"key":"B133","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1186\/s13148-021-01204-4","article-title":"Genome-wide methylation patterns in Marfan syndrome","volume":"13","author":"van Andel","year":"2021","journal-title":"Clin. Epigenetics"},{"key":"B134","doi-asserted-by":"publisher","first-page":"4181","DOI":"10.1093\/eurheartj\/ehaa377","article-title":"Long-term clinical outcomes of losartan in patients with marfan syndrome: Follow-up of the multicentre randomized controlled COMPARE trial","volume":"41","author":"van Andel","year":"2020","journal-title":"Eur. Heart J."},{"key":"B135","doi-asserted-by":"publisher","first-page":"438","DOI":"10.3390\/ijms23010438","article-title":"Multi-omics profiling in marfan syndrome: Further insights into the molecular mechanisms involved in aortic disease","volume":"23","author":"Verhagen","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"B136","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1002\/humu.22977","article-title":"Marfan syndrome and related disorders: 25 Years of gene discovery","volume":"37","author":"Verstraeten","year":"2016","journal-title":"Hum. Mutat."},{"key":"B137","doi-asserted-by":"publisher","first-page":"e004968","DOI":"10.1161\/JAHA.116.004968","article-title":"Aortopathy in a mouse model of marfan syndrome is not mediated by altered transforming growth factor \u03b2 signaling","volume":"6","author":"Wei","year":"2017","journal-title":"J. Am. Heart Assoc."},{"key":"B138","doi-asserted-by":"publisher","first-page":"1065","DOI":"10.1006\/jmbi.1999.3513","article-title":"Backbone dynamics of a cbEGF domain pair in the presence of calcium","volume":"296","author":"Werner","year":"2000","journal-title":"J. Mol. Biol."},{"key":"B139","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1093\/hmg\/ddg081","article-title":"Defective secretion of recombinant fragments of fibrillin-1: Implications of protein misfolding for the pathogenesis of marfan syndrome and related disorders","volume":"12","author":"Whiteman","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"B140","doi-asserted-by":"publisher","first-page":"12732","DOI":"10.1074\/jbc.M115.704734","article-title":"Extracellular regulation of bone morphogenetic protein activity by the microfibril component fibrillin-1","volume":"291","author":"Wohl","year":"2016","journal-title":"J. Biol. Chem."},{"key":"B141","doi-asserted-by":"publisher","first-page":"e1041","DOI":"10.1002\/mgg3.1041","article-title":"Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection","volume":"8","author":"Xu","year":"2020","journal-title":"Mol. Genet. Genomic Med."},{"key":"B142","doi-asserted-by":"publisher","first-page":"1743","DOI":"10.1016\/j.str.2013.08.004","article-title":"Structure of the fibrillin-1 N-terminal domains suggests that heparan sulfate regulates the early stages of microfibril assembly","volume":"21","author":"Yadin","year":"2013","journal-title":"Structure"},{"key":"B143","doi-asserted-by":"publisher","first-page":"1359","DOI":"10.1097\/CM9.0000000000001406","article-title":"Weill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance","volume":"134","author":"Yang","year":"2021","journal-title":"Chin. Med. J."},{"key":"B144","article-title":"substitution and calcium-binding mutations in FBN1 cbEGF-like domains are associated with severe ocular involvement in patients with congenital ectopia lentis","volume-title":"Frontiers in cell and developmental biology","author":"Zhang","year":"2021"}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2022.943083\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,13]],"date-time":"2022-09-13T15:16:56Z","timestamp":1663082216000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2022.943083\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,16]]},"references-count":145,"alternative-id":["10.3389\/fgene.2022.943083"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2022.943083","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,16]]},"article-number":"943083"}}