{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T16:57:16Z","timestamp":1789750636533,"version":"4.0.1"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,3,18]],"date-time":"2005-03-18T00:00:00Z","timestamp":1111104000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome involving the Wilms tumor 1 gene (\n                    <jats:italic>WT1<\/jats:italic>\n                    ), the paired box gene 6 (\n                    <jats:italic>PAX6<\/jats:italic>\n                    ), and possibly other genes on chromosome 11p13.\n                    <jats:italic>WT1<\/jats:italic>\n                    is required for normal formation of the genitourinary system and the high incidence of Wilms tumor and genitourinary anomalies found in patients with WAGR are attributed to haploinsufficiency of this gene. It has been hypothesized that\n                    <jats:italic>WT1<\/jats:italic>\n                    also plays an important role in the development of the diaphragm. During mammalian embryonic development,\n                    <jats:italic>WT1<\/jats:italic>\n                    is expressed in the pleural and abdominal mesothelium that forms part of the diaphragm. Furthermore, mice that are homozygous for a deletion in the mouse homolog of\n                    <jats:italic>WT1<\/jats:italic>\n                    have diaphragmatic hernias. Case reports describing congenital diaphragmatic hernias in infants with Denys\u2013Drash and Frasier syndromes, both of which can be caused by mutations in\n                    <jats:italic>WT1<\/jats:italic>\n                    , provide additional support for this hypothesis. We report an infant with aniridia, bilateral cryptorchidism, vesicoureteral reflux, and a right\u2010sided Morgagni\u2010type diaphragmatic hernia. G\u2010banded chromosome analysis revealed a deletion of 11p12\u2010p15.1. Breakpoint regions were refined by fluorescence in situ hybridization (FISH) and deletion of the WAGR critical region, including\n                    <jats:italic>WT1<\/jats:italic>\n                    , was confirmed. A review of the medical literature identified a second patient with a deletion of 11p13, a left\u2010sided Bochdalek\u2010type diaphragmatic hernia, and anomalies that suggest a diagnosis of WAGR including bilateral microphthalmia, a small penis, bilateral cryptorchidism, and a hypoplastic scrotum. These cases demonstrate that congenital diaphragmatic hernia can be associated with WAGR syndrome and suggest that deletions of\n                    <jats:italic>WT1<\/jats:italic>\n                    may predispose individuals to develop congenital diaphragmatic hernia. \u00a9 2005 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.30654","type":"journal-article","created":{"date-parts":[[2005,3,19]],"date-time":"2005-03-19T07:26:47Z","timestamp":1111217207000},"page":"430-433","source":"Crossref","is-referenced-by-count":42,"title":["Congenital diaphragmatic hernia in WAGR syndrome"],"prefix":"10.1002","volume":"134A","author":[{"given":"D.A.","family":"Scott","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.L.","family":"Cooper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Stankiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Patel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Potocki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.W.","family":"Cheung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,3,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/1.5.301"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1297-467"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.1.66"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2000.00036.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570120"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199605)16:5<455::AID-PD865>3.0.CO;2-S"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb04380.x"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(00)89073-3"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0994-13a"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90515-R"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(96)90412-1"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90194-4"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/346194a0"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0168-9525(91)90103-W"}],"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.30654","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30654","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T10:52:17Z","timestamp":1697626337000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30654"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,3,18]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,5]]}},"alternative-id":["10.1002\/ajmg.a.30654"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30654","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,3,18]]}}}