{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T13:37:03Z","timestamp":1777383423990,"version":"3.51.4"},"reference-count":16,"publisher":"Public Library of Science (PLoS)","issue":"12","license":[{"start":{"date-parts":[[2013,12,11]],"date-time":"2013-12-11T00:00:00Z","timestamp":1386720000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0083073","type":"journal-article","created":{"date-parts":[[2013,12,11]],"date-time":"2013-12-11T16:36:18Z","timestamp":1386779778000},"page":"e83073","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":12,"title":["A Large Novel Deletion Downstream of PAX6 Gene in a Chinese Family with Ocular Coloboma"],"prefix":"10.1371","volume":"8","author":[{"given":"Hong","family":"Guo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Limeng","family":"Dai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanming","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiong","family":"Liao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun","family":"Bai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2013,12,11]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1136\/jmg.2004.025494","article-title":"Ocular coloboma: a reassessment in the age of molecular neuroscience","volume":"41","author":"CY Gregory-Evans","year":"2004","journal-title":"J Med Genet"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1002\/dneu.20895","article-title":"The role of Pax6 in forebrain development","volume":"71","author":"PA Georgala","year":"2011","journal-title":"Dev Neurobiol"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.ymgme.2011.09.029","article-title":"Eye development genes and known syndromes","volume":"104","author":"AM Slavotinek","year":"2011","journal-title":"Mol Genet Metab"},{"key":"ref4","first-page":"1245","article-title":"A deletion 3&apos; to the PAX6 gene in familial aniridia cases","volume":"13","author":"AV D'Elia","year":"2007","journal-title":"Mol Vis"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1111\/j.1399-0004.2010.01372.x","article-title":"Clinical and molecular aspects of aniridia","volume":"77","author":"H Kokotas","year":"2010","journal-title":"Clin Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"13755","DOI":"10.1073\/pnas.240398797","article-title":"3&apos; deletions cause aniridia by preventing PAX6 gene expression","volume":"97","author":"JD Lauderdale","year":"2000","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.tig.2008.03.001","article-title":"The functional impact of structural variation in humans","volume":"24","author":"ME Hurles","year":"2008","journal-title":"Trends Genet"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/S0925-4773(01)00646-3","article-title":"New 3&apos; elements control Pax6 expression in the developing pretectum, neural retina and olfactory region","volume":"112","author":"C Griffin","year":"2002","journal-title":"Mech Dev"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"e28616","DOI":"10.1371\/journal.pone.0028616","article-title":"DNaseI hypersensitivity and ultraconservation reveal novel, interdependent long-range enhancers at the complex Pax6 cis-regulatory region","volume":"6","author":"DJ McBride","year":"2011","journal-title":"PLOS ONE"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"2049","DOI":"10.1093\/hmg\/10.19.2049","article-title":"Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6","volume":"10","author":"DA Kleinjan","year":"2001","journal-title":"Hum Mol Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1016\/j.ydbio.2006.08.060","article-title":"Long-range downstream enhancers are essential for Pax6 expression","volume":"299","author":"DA Kleinjan","year":"2006","journal-title":"Dev Biol"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1007\/s00439-008-0484-x","article-title":"Pax6 3&apos; deletion results in aniridia, autism and mental retardation","volume":"123","author":"LK Davis","year":"2008","journal-title":"Hum Genet"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1016\/j.jocn.2009.03.022","article-title":"A novel heterozygous deletion within the 3&apos; region of the PAX6 gene causing isolated aniridia in a large family group","volume":"16","author":"F Bayrakli","year":"2009","journal-title":"J Clin Neurosci"},{"key":"ref14","first-page":"448","article-title":"A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family","volume":"17","author":"F Cheng","year":"2011","journal-title":"Mol Vis"},{"key":"ref15","first-page":"548","article-title":"Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotype","volume":"17","author":"X Zhang","year":"2011","journal-title":"Mol Vis"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"44","DOI":"10.3109\/13816810.2011.615076","article-title":"PAX6 3&apos; deletion in a family with aniridia","volume":"33","author":"A Wawrocka","year":"2012","journal-title":"Ophthalmic Genet"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0083073","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,10,22]],"date-time":"2018-10-22T15:58:37Z","timestamp":1540223917000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0083073"}},"subtitle":[],"editor":[{"given":"Ken","family":"Mills","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2013,12,11]]},"references-count":16,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2013,12,11]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0083073","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,11]]}}}