{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T17:44:43Z","timestamp":1791308683240,"version":"4.3.1"},"reference-count":26,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[1998,3,1]],"date-time":"1998-03-01T00:00:00Z","timestamp":888710400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":5619,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[1998,3]]},"DOI":"10.1086\/301747","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:45:21Z","timestamp":1027709121000},"page":"627-632","source":"Crossref","is-referenced-by-count":89,"title":["Mapping of X-Linked Myxomatous Valvular Dystrophy to Chromosome Xq28"],"prefix":"10.1016","volume":"62","author":[{"given":"Florence","family":"Kyndt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Jacques","family":"Schott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-No\u00ebl","family":"Trochu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Baranger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Odile","family":"Herbert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edith","family":"Fressinaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"David","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Paul","family":"Moisan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Brieuc","family":"Bouhour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herv\u00e9","family":"Le Marec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"B\u00e9nichou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/301747_bib1","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1136\/hrt.31.2.227","article-title":"Cardiac abnormalities in the Ehlers-Danlos syndrome","volume":"31","author":"Beighton","year":"1969","journal-title":"Br Heart J"},{"key":"10.1086\/301747_bib2","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1038\/ng0496-385","article-title":"A novel X-linked gene, G4.5, is responsible for Barth syndrome","volume":"12","author":"Bione","year":"1996","journal-title":"Nat Genet"},{"key":"10.1086\/301747_bib3","doi-asserted-by":"crossref","first-page":"826","DOI":"10.7326\/0003-4819-97-6-826","article-title":"Inheritance of mitral valve prolapse: effect of age and sex on gene expression","volume":"97","author":"Devereux","year":"1982","journal-title":"Ann Intern Med"},{"key":"10.1086\/301747_bib4","first-page":"581","article-title":"Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita","volume":"60","author":"Devriendt","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1086\/301747_bib5","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/380152a0","article-title":"A comprehensive genetic map of the human genome based on 5,264 microsatellites","volume":"380","author":"Dib","year":"1996","journal-title":"Nature"},{"key":"10.1086\/301747_bib8","doi-asserted-by":"crossref","first-page":"4571","DOI":"10.1016\/S0021-9258(18)83781-4","article-title":"Deduced protein sequence of bone small proteoglycan I (biglycan) shows homology with proteoglycan II (decorin) and several nonconnective tissue proteins in a variety of species","volume":"264","author":"Fisher","year":"1989","journal-title":"J Biol Chem"},{"key":"10.1086\/301747_bib7","doi-asserted-by":"crossref","first-page":"1784","DOI":"10.1126\/science.1465614","article-title":"Identification of a second pseudoautosomal region near the Xq and Yq telomeres","volume":"258","author":"Freije","year":"1992","journal-title":"Science"},{"key":"10.1086\/301747_bib9","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1136\/jmg.32.5.383","article-title":"X-linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome","volume":"32","author":"Gedeon","year":"1995","journal-title":"J Med Genet"},{"key":"10.1086\/301747_bib11","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1136\/hrt.61.3.292","article-title":"Genetic evidence that mutations in the COL1A1, COL1A2, COL3A1, or COL5A2 collagen genes are not responsible for mitral valve prolapse","volume":"61","author":"Henney","year":"1989","journal-title":"Br Heart J"},{"key":"10.1086\/301747_bib12","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1161\/01.CIR.62.2.212","article-title":"Report of the American Society of Echocardiography Committee on Nomenclature and Standards in Two-Dimensional Echocardiography","volume":"62","author":"Henry","year":"1980","journal-title":"Circulation"},{"key":"10.1086\/301747_bib13","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/0002-8703(69)90002-7","article-title":"Prolapse of the posterior leaflet of the mitral valve occurring in eleven members of a family","volume":"8","author":"Hunt","year":"1969","journal-title":"Am Heart J"},{"key":"10.1086\/301747_bib14","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1093\/hmg\/1.3.179","article-title":"Isolation and sequence of two genes associated with a CpG island 5\u2032 of the factor VIII Gene","volume":"1","author":"Kenwrick","year":"1992","journal-title":"Hum Mol Genet"},{"key":"10.1086\/301747_bib15","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1161\/01.CIR.66.2.288","article-title":"\u201cMyxomatous\u201d mitral valves: collagen dissolution as the primary defect","volume":"66","author":"King","year":"1982","journal-title":"Circulation"},{"issue":"Suppl 33","key":"10.1086\/301747_bib16","first-page":"82A","article-title":"Inheritance of mitral valve prolapse: autosomal dominant with variable expression","author":"Kramer","year":"1981","journal-title":"Am J Hum Genet"},{"key":"10.1086\/301747_bib17","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1111\/j.1365-2141.1994.tb04833.x","article-title":"Haemophilia A diagnosis by simultaneous analysis of two variable dinucleotide tandem repeats within the factor VIII gene","volume":"86","author":"Lalloz","year":"1994","journal-title":"Br J Haematol"},{"key":"10.1086\/301747_bib18","first-page":"460","article-title":"Easy calculations of LOD scores and genetic risks on small computers","volume":"36","author":"Lathrop","year":"1984","journal-title":"Am J Hum Genet"},{"key":"10.1086\/301747_bib100","series-title":"Mendelian inheritance in man: a catalog of human genes and genetic disorders","author":"McKusick","year":"1997"},{"key":"10.1086\/301747_bib19","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1161\/01.CIR.39.5.611","article-title":"Possible X-linked congenital heart disease","volume":"39","author":"Monteleone","year":"1969","journal-title":"Circulation"},{"key":"10.1086\/301747_bib20","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1006\/geno.1994.1511","article-title":"A DNA fragment from Xq21 replaces a deleted region containing the entire FVIII gene in a severe hemophilia A patient","volume":"23","author":"Murru","year":"1992","journal-title":"Genomics"},{"key":"10.1086\/301747_bib21","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1136\/jmg.30.10.873","article-title":"Sex-linked valvular dysplasia","volume":"30","author":"Newbury-Ecob","year":"1993","journal-title":"J Med Genet"},{"key":"10.1086\/301747_bib22","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1016\/0002-9343(83)91070-7","article-title":"Mitral valve dysfunction in the Marfan syndrome: clinical and echocardiographic study of prevalence and natural history","volume":"74","author":"Pyeritz","year":"1983","journal-title":"Am J Med"},{"key":"10.1086\/301747_bib24","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1016\/0002-8703(83)90704-4","article-title":"Mitral valve prolapse in the general population. I. Epidemiologic features: the Framingham study","volume":"106","author":"Savage","year":"1983","journal-title":"Am Heart J"},{"key":"10.1086\/301747_bib25","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1016\/0002-8703(95)90397-6","article-title":"Abnormalities in elastic fibers and other connective-tissue components of floppy mitral valve","volume":"6","author":"Tamura","year":"1995","journal-title":"Am Heart J"},{"key":"10.1086\/301747_bib26","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/0888-7543(92)90279-2","article-title":"Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel","volume":"13","author":"Traupe","year":"1992","journal-title":"Genomics"},{"key":"10.1086\/301747_bib27","doi-asserted-by":"crossref","first-page":"1080","DOI":"10.1016\/0002-9149(94)90287-9","article-title":"In vivo mitral valve morphology and motion in mitral valve prolapse","volume":"73","author":"Weissman","year":"1994","journal-title":"Am J Cardiol"},{"key":"10.1086\/301747_bib28","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1136\/hrt.61.3.300","article-title":"Genetic segregation analysis of familial mitral valve prolapse shows no linkage of fibrillar collagen genes","volume":"61","author":"Wordsworth","year":"1989","journal-title":"Br Heart J"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707638439?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707638439?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,5,17]],"date-time":"2021-05-17T06:19:29Z","timestamp":1621232369000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707638439"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,3]]},"references-count":26,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1998,3]]}},"alternative-id":["S0002929707638439"],"URL":"https:\/\/doi.org\/10.1086\/301747","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[1998,3]]}}}