{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T21:21:33Z","timestamp":1780521693313,"version":"3.54.1"},"reference-count":24,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,4,16]],"date-time":"2018-04-16T00:00:00Z","timestamp":1523836800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:p>The <jats:italic>NR2F2<\/jats:italic> gene plays an important role in angiogenesis and heart development. Moreover, this gene is involved in organogenesis in many other organs in mouse models. Variants in this gene have been reported in a number of patients with nonsyndromic atrioventricular septal defect, and in one patient with congenital heart defect and dysmorphic features. Here we report an 11\u2010month\u2010old Caucasian male with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect. He was later found to have a pathogenic mutation in the <jats:italic>NR2F2<\/jats:italic> gene by whole exome sequencing. This is the second instance in which an <jats:italic>NR2F2<\/jats:italic> mutation has been identified in a child with a congenital heart defect and other anomalies. This case suggests that some variants in <jats:italic>NR2F2<\/jats:italic> may cause syndromic forms of congenital heart defect.<\/jats:p>","DOI":"10.1002\/ajmg.a.38700","type":"journal-article","created":{"date-parts":[[2018,4,17]],"date-time":"2018-04-17T01:10:28Z","timestamp":1523927428000},"page":"1423-1426","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Novel de novo pathogenic variant in the <i>NR2F2<\/i> gene in a boy with congenital heart defect and dysmorphic features"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7589-5991","authenticated-orcid":false,"given":"Jariya","family":"Upadia","sequence":"first","affiliation":[{"name":"Department of Genetics University of Alabama at Birmingham Birmingham Alabama"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick R.","family":"Gonzales","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Alabama at Birmingham Birmingham Alabama"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathaniel H.","family":"Robin","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Alabama at Birmingham Birmingham Alabama"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,4,16]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.02.016"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.02.012"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-103943"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.60"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951107000881"},{"key":"e_1_2_4_7_1","first-page":"13","volume-title":"Perspective in Pediatric Cardiology","author":"Ferencz 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