{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,5,19]],"date-time":"2023-05-19T04:32:25Z","timestamp":1684470745115},"reference-count":6,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2010,6,4]],"date-time":"2010-06-04T00:00:00Z","timestamp":1275609600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eye"],"published-print":{"date-parts":[[2010,10]]},"DOI":"10.1038\/eye.2010.82","type":"journal-article","created":{"date-parts":[[2010,6,4]],"date-time":"2010-06-04T09:44:58Z","timestamp":1275644698000},"page":"1614-1617","source":"Crossref","is-referenced-by-count":2,"title":["Unique phenotype in a Chinese family pedigree: ectopia lentis with varicose great saphenous vein"],"prefix":"10.1038","volume":"24","author":[{"given":"W","family":"Shen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Q","family":"Fu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Sui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2010,6,4]]},"reference":[{"key":"BFeye201082_CR1","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1016\/S0959-437X(96)80007-4","volume":"6","author":"F Ramirez","year":"1996","unstructured":"Ramirez F . Fibrillin mutations in Marfan syndrome and related phenotypes. Curr Opin Genet Dev 1996; 6: 309\u2013315.","journal-title":"Curr Opin Genet Dev"},{"key":"BFeye201082_CR2","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1016\/j.gde.2007.04.006","volume":"17","author":"F Ramirez","year":"2007","unstructured":"Ramirez F, Dietz HC . Marfan syndrome: from molecular pathogenesis to clinical treatment. Curr Opin Genet Dev 2007; 17: 252\u2013258.","journal-title":"Curr Opin Genet Dev"},{"issue":"8","key":"BFeye201082_CR3","doi-asserted-by":"publisher","first-page":"770","DOI":"10.1002\/humu.20354","volume":"27","author":"KK Singh","year":"2006","unstructured":"Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J et al. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys Dietz syndrome. Hum Mutat 2006; 27 (8): 770\u2013777.","journal-title":"Hum Mutat"},{"key":"BFeye201082_CR4","doi-asserted-by":"publisher","first-page":"908","DOI":"10.1136\/jmg.2006.042176","volume":"43","author":"C Law","year":"2006","unstructured":"Law C, Bunyan D, Castle B, Day L, Simpson I, Westwood G et al. Clinical features in a family with an R460H mutation in transforming growth factor \u03b2 receptor2 gene. J Med Gent 2006; 43: 908\u2013916.","journal-title":"J Med Gent"},{"key":"BFeye201082_CR5","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1002\/ajmg.1320530114","volume":"53","author":"MJ Edwards","year":"1994","unstructured":"Edwards MJ, Challinor CJ, Colley PW, Roberts J, Partington MW, Hollway GE . Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1. Am J Med Genet 1994; 53: 65\u201371.","journal-title":"Am J Med Genet"},{"key":"BFeye201082_CR6","doi-asserted-by":"publisher","first-page":"123","DOI":"10.3109\/13816819009012957","volume":"11","author":"M al-Salem","year":"1990","unstructured":"al-Salem M . Autosomal recessive ectopia lentis in tow Arab family pedigrees. Ophthalmic Paediatr Genet 1990; 11: 123\u2013127.","journal-title":"Ophthalmic Paediatr Genet"}],"container-title":["Eye"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/eye201082.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/eye201082","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/eye201082.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:12:39Z","timestamp":1684429959000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/eye201082"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,6,4]]},"references-count":6,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2010,10]]}},"alternative-id":["BFeye201082"],"URL":"https:\/\/doi.org\/10.1038\/eye.2010.82","relation":{},"ISSN":["0950-222X","1476-5454"],"issn-type":[{"value":"0950-222X","type":"print"},{"value":"1476-5454","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,6,4]]}}}