{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T11:07:58Z","timestamp":1780916878159,"version":"3.54.1"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,2,14]],"date-time":"2020-02-14T00:00:00Z","timestamp":1581638400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,2,14]],"date-time":"2020-02-14T00:00:00Z","timestamp":1581638400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Congenital aniridia involves total or partial hypoplasia of the iris and is due to a deficiency in\n                      <jats:italic>PAX6<\/jats:italic>\n                      gene expression. WAGR syndrome is comprised of Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. Numerous genitourinary pathologies may be associated with WAGR syndrome, necessitating an evaluation of the genitourinary anatomy. The WT1 is vital for the development of kidneys, ovaries in females, and testes in males. WT1 gene mutations result in a WT1 protein with a decreased ability to bind to DNA, leading to uncontrolled growth, and cell division in the kidney which permits the development of Wilms tumor. A congenital ureteral valve is an exceedingly rare cause of obstructive uropathy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A renal and bladder ultrasound demonstrated a renal cyst. A voiding cystourethrogram revealed grade 3 vesicoureteral reflux, and a MAG3 renal scan showed ureteropelvic junction obstruction and hydronephrosis. A ureteral stent was inserted at 3\u00a0months of age after which the renal cyst resolved. The patient was urinary tract infection\u2010free at 27\u00a0months of age. Genetic testing confirmed a heterozygous alteration in\n                      <jats:italic>PAX6<\/jats:italic>\n                      (c.495delG, p.Thr166Leufs*41) and no abnormalities of WT1, excluding WAGR syndrome.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The genitourinary risks potentially associated with aniridia necessitate prompt genetic analysis to evaluate for WAGR syndrome.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1183","type":"journal-article","created":{"date-parts":[[2020,2,14]],"date-time":"2020-02-14T04:07:06Z","timestamp":1581653226000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Bilateral aniridia and congenital ureteral valve: Role of genetic testing"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1526-4063","authenticated-orcid":false,"given":"Lisa B. E.","family":"Shields","sequence":"first","affiliation":[{"name":"Norton Neuroscience Institute Norton Healthcare Louisville KY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis S.","family":"Peppas","sequence":"additional","affiliation":[{"name":"Norton Children's Urology Norton Healthcare Louisville KY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eran","family":"Rosenberg","sequence":"additional","affiliation":[{"name":"Norton Children's Urology Norton Healthcare Louisville KY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,2,14]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(18)30293-6"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/305350"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yapd.2012.04.001"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2019.00108"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.4238\/2014.March.24.15"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(87)80250-6"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpurol.2007.02.002"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1586\/17469899.2016.1152182"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)49007-0"},{"key":"e_1_2_8_11_1","first-page":"335","article-title":"A novel PAX6 gene mutation in a Chinese family with aniridia","volume":"11","author":"Song S.","year":"2005","journal-title":"Molecular Vision"},{"key":"e_1_2_8_12_1","first-page":"12","article-title":"Wilms' tumor: Biology, diagnosis and treatment","volume":"3","author":"Szychot E.","year":"2014","journal-title":"Translational Pediatrics"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200940"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)68266-1"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.1183","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1183","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1183","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1183","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T10:21:36Z","timestamp":1780914096000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1183"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2,14]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,4]]}},"alternative-id":["10.1002\/mgg3.1183"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1183","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,2,14]]},"assertion":[{"value":"2019-11-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-01-30","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-02-14","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1183"}}