{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T08:22:16Z","timestamp":1789201336569,"version":"build-2803163510"},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3888,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Simple ectopia lentis (EL) was studied in a large family, by clinical examination and analysis of linkage to markers in the region of <jats:italic>FBNl<\/jats:italic>, the gene for fibrillin which causes Marfan syndrome on chromosome 15. No patient had clinical or echocardiographic evidence of Marfan syndrome, although there was a trend towards relatively longer measurements of height; lower segment; arm span; middle finger, hand, and foot length in the affected members of the family, compared with unaffected sibs of the same sex. Analysis of linkage to intragenic <jats:italic>FBN1<\/jats:italic> markers was inconclusive because they were relatively uninformative. Construction of a multipoint background map from the CEPH reference families identified microsatellite markers linked closely to <jats:italic>FBN1<\/jats:italic> which could demonstrate linkage of EL in this family to the <jats:italic>FBN1<\/jats:italic> region. LINKMAP analysis detected a multipoint lod score of 5.68 at <jats:italic>D15S119<\/jats:italic>, a marker approximately 6 cM distal to <jats:italic>FBN1<\/jats:italic>, and a multipoint lod score of 5.04 at <jats:italic>FBN1.<\/jats:italic> The EL gene in this family is likely to be allelic to Marfan syndrome, and molecular characterization of the <jats:italic>FBN1<\/jats:italic> mutation should now be possible. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320530114","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:44:53Z","timestamp":1118511893000},"page":"65-71","source":"Crossref","is-referenced-by-count":23,"title":["Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1"],"prefix":"10.1002","volume":"53","author":[{"given":"M. J.","family":"Edwards","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. 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