{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T18:25:38Z","timestamp":1789410338097,"version":"build-2803163510"},"reference-count":31,"publisher":"Public Library of Science (PLoS)","issue":"7","license":[{"start":{"date-parts":[[2016,7,27]],"date-time":"2016-07-27T00:00:00Z","timestamp":1469577600000},"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.0160016","type":"journal-article","created":{"date-parts":[[2016,7,27]],"date-time":"2016-07-27T17:43:45Z","timestamp":1469641425000},"page":"e0160016","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":22,"title":["A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma"],"prefix":"10.1371","volume":"11","author":[{"given":"Shazia","family":"Micheal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sorath Noorani","family":"Siddiqui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saemah Nuzhat","family":"Zafar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Villanueva-Mendoza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vianney","family":"Cort\u00e9s-Gonz\u00e1lez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Imran","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anneke I.","family":"den Hollander","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2016,7,27]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/j.survophthal.2006.02.006","article-title":"A review of anterior segment dysgeneses","volume":"51","author":"F Idrees","year":"2006","journal-title":"Survey of ophthalmology"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"52","DOI":"10.2174\/1874364101004010052","article-title":"Aqueous humor dynamics: a review","volume":"4","author":"M Goel","year":"2010","journal-title":"The open ophthalmology journal"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1016\/j.exer.2009.02.007","article-title":"The trabecular meshwork outflow pathways: structural and functional aspects","volume":"88","author":"ER Tamm","year":"2009","journal-title":"Experimental eye research"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"1901","DOI":"10.1001\/jama.2014.3192","article-title":"The pathophysiology and treatment of glaucoma: a review","volume":"311","author":"RN Weinreb","year":"2014","journal-title":"Jama"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1111\/j.1755-3768.2008.01427.x","article-title":"Aniridia: current pathology and management","volume":"86","author":"H Lee","year":"2008","journal-title":"Acta Ophthalmol"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1016\/0039-6257(84)90184-X","article-title":"Aniridia. A review","volume":"28","author":"LB Nelson","year":"1984","journal-title":"Survey of ophthalmology"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1038\/ejhg.2012.100","article-title":"Aniridia","volume":"20","author":"M Hingorani","year":"2012","journal-title":"European journal of human genetics: EJHG"},{"key":"ref8","first-page":"389","article-title":"Congenital Aniridia","volume":"12","author":"MW Shaw","year":"1960","journal-title":"American journal of human genetics"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"1527","DOI":"10.1038\/ejhg.2009.93","article-title":"Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations","volume":"17","author":"Z Tumer","year":"2009","journal-title":"European journal of human genetics: EJHG"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1111\/ceo.12152","article-title":"Genomics and anterior segment dysgenesis: a review","volume":"42","author":"YA Ito","year":"2014","journal-title":"Clinical & experimental ophthalmology"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1038\/ng0892-328","article-title":"The human PAX6 gene is mutated in two patients with aniridia","volume":"1","author":"T Jordan","year":"1992","journal-title":"Nature genetics"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1080\/13816810801908152","article-title":"Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother","volume":"29","author":"AO Khan","year":"2008","journal-title":"Ophthalmic genetics"},{"key":"ref13","first-page":"43","article-title":"Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India","volume":"9","author":"S Komatireddy","year":"2003","journal-title":"Molecular vision"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1016\/0092-8674(91)90284-6","article-title":"Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region","volume":"67","author":"CC Ton","year":"1991","journal-title":"Cell"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1631\/jzus.B1300053","article-title":"Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome","volume":"15","author":"HF Yin","year":"2014","journal-title":"Journal of Zhejiang University Science B"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"360","DOI":"10.3343\/alm.2013.33.5.360","article-title":"Novel c.300_301delinsT mutation in PITX2 in a Korean family with Axenfeld-Rieger syndrome","volume":"33","author":"JW Yun","year":"2013","journal-title":"Annals of laboratory medicine"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"119","DOI":"10.3109\/13816810.2011.642452","article-title":"Microphthalmia, late onset keratitis, and iris coloboma\/aniridia in a family with a novel PAX6 mutation","volume":"33","author":"X Xiao","year":"2012","journal-title":"Ophthalmic genetics"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1242\/dev.121.5.1433","article-title":"The role of Pax-6 in eye and nasal development","volume":"121","author":"JC Grindley","year":"1995","journal-title":"Development"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1038\/354522a0","article-title":"Mouse small eye results from mutations in a paired-like homeobox-containing gene","volume":"354","author":"RE Hill","year":"1991","journal-title":"Nature"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1038\/ng0894-463","article-title":"PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects","volume":"7","author":"T Glaser","year":"1994","journal-title":"Nature genetics"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1038\/ng1192-232","article-title":"Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene","volume":"2","author":"T Glaser","year":"1992","journal-title":"Nature genetics"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1002\/(SICI)1098-1004(1998)11:2<93::AID-HUMU1>3.0.CO;2-M","article-title":"PAX6 mutations reviewed","volume":"11","author":"J Prosser","year":"1998","journal-title":"Human mutation"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/1471-2156-6-27","article-title":"PAX6 mutations: genotype-phenotype correlations","volume":"6","author":"I Tzoulaki","year":"2005","journal-title":"BMC genetics"},{"key":"ref24","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":"Clinical genetics"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1038\/ng0294-168","article-title":"Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters&apos; anomaly","volume":"6","author":"IM Hanson","year":"1994","journal-title":"Nature genetics"},{"key":"ref26","first-page":"828","article-title":"Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies","volume":"39","author":"N Azuma","year":"1998","journal-title":"Investigative ophthalmology & visual science"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/S0168-9525(03)00111-2","article-title":"Fox&apos;s in development and disease","volume":"19","author":"OJ Lehmann","year":"2003","journal-title":"Trends in genetics: TIG"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"3573","DOI":"10.1167\/iovs.08-3032","article-title":"Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia","volume":"50","author":"YA Ito","year":"2009","journal-title":"Investigative ophthalmology & visual science"},{"key":"ref29","first-page":"3613","article-title":"Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly","volume":"43","author":"SG Panicker","year":"2002","journal-title":"Investigative ophthalmology & visual science"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1093\/hmg\/9.7.1021","article-title":"Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development","volume":"9","author":"RS Smith","year":"2000","journal-title":"Human molecular genetics"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"2015","DOI":"10.1073\/pnas.1109540109","article-title":"Forkhead box transcription factor FoxC1 preserves corneal transparency by regulating vascular growth","volume":"109","author":"S Seo","year":"2012","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0160016","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,3]],"date-time":"2022-07-03T23:53:29Z","timestamp":1656892409000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0160016"}},"subtitle":[],"editor":[{"given":"Michael G","family":"Anderson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2016,7,27]]},"references-count":31,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2016,7,27]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0160016","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7,27]]}}}