{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T19:49:53Z","timestamp":1771962593669,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,2,18]],"date-time":"2015-02-18T00:00:00Z","timestamp":1424217600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Foerderer Fund"},{"name":"Alcon Fellowship Grant"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Axenfeld\u2013Rieger spectrum (ARS) includes the anterior segment abnormalities posterior embryotoxon, irido\u2010corneal adhesions, corectopia, and other abnormalities of pupil size and shape. Glaucoma occurs in approximately 50% of affected children. It is often caused by mutations of <jats:italic>FOXC1<\/jats:italic> or <jats:italic>PITX2<\/jats:italic>. Timing of expression and dosage of these transcription factors appear to be very critical in the development of the anterior segment. We report on one child with a deletion and another with a duplication involving 6p25, causing an anirdia\u2010like phenotype. Classic anirdia is a pan\u2010ophthalmic disorder caused by heterozygous mutations involving the paired homeobox gene <jats:italic>PAX6<\/jats:italic> at 11p13. It is often associated with optic nerve hypoplasia, foveal hypoplasia, corneal pannus, nystagmus, and cataract. Microdeletion of 11p13 may be associated with life threatening Wilms tumor. Distinguishing these two syndromes has critical implications for prognosis and treatment. We demonstrate how chromosomal microarray can be instrumental in differentiating these phenotypes. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36890","type":"journal-article","created":{"date-parts":[[2015,2,18]],"date-time":"2015-02-18T06:39:36Z","timestamp":1424241576000},"page":"524-528","source":"Crossref","is-referenced-by-count":20,"title":["Anirdia\u2010like phenotype caused by 6p25 dosage aberrations"],"prefix":"10.1002","volume":"167","author":[{"given":"Karthikeyan","family":"Arcot Sadagopan","sequence":"first","affiliation":[{"name":"Ocular Genetics Wills Eye Institute Philadelphia Pennsylvania"},{"name":"Department of Pediatric Ophthalmology Strabismus and Ocular Genetics Ocular Genetics Service Aravind Eye Hospital Madurai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grace T.","family":"Liu","sequence":"additional","affiliation":[{"name":"Ocular Genetics Wills Eye Institute Philadelphia Pennsylvania"},{"name":"Pediatric Ophthalmic Consultants New York City New York"},{"name":"Department of Ophthalmology New York University New York City New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jenina E.","family":"Capasso","sequence":"additional","affiliation":[{"name":"Ocular Genetics Wills Eye Institute Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wadakarn","family":"Wuthisiri","sequence":"additional","affiliation":[{"name":"Ocular Genetics Wills Eye Institute Philadelphia Pennsylvania"},{"name":"Department of Ophthalmology Faculty of Medicine Ramathibodi Hospital Mahidol University Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosanne B.","family":"Keep","sequence":"additional","affiliation":[{"name":"Ocular Genetics Wills Eye Institute Philadelphia Pennsylvania"},{"name":"Department of Ophthalmology Faculty of Medicine Ramathibodi Hospital Mahidol University Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alex V.","family":"Levin","sequence":"additional","affiliation":[{"name":"Ocular Genetics Wills Eye Institute Philadelphia Pennsylvania"},{"name":"Quest Diagnostics Madison New Jersey"},{"name":"Thomas Jefferson University Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,2,18]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr038"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-5-17"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.08-3032"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810801908152"},{"key":"e_1_2_5_6_1","first-page":"708","article-title":"Genetic and genomic analysis of classic aniridia in Saudi Arabia","volume":"17","author":"Khan AO","year":"2011","journal-title":"Mol Vis"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2010.544365"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/426833"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.8.685"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/321194"},{"key":"e_1_2_5_11_1","first-page":"1843","article-title":"Ocular Developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions","volume":"43","author":"Lehmann OJ","year":"2002","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.10.1177"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0025489"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/302109"},{"key":"e_1_2_5_15_1","first-page":"2456","article-title":"Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations","volume":"41","author":"Perveen R","year":"2000","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"e_1_2_5_16_1","first-page":"1","article-title":"PITX2 and FOXC1 spectrum of mutations in ocular syndromes","author":"Reis LM","year":"2012","journal-title":"Euro J Hum Genet"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/318792"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.7.1021"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.06-0472"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.93"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36890","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36890","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36890","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T18:48:28Z","timestamp":1696618108000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36890"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,18]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["10.1002\/ajmg.a.36890"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36890","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,18]]}}}