{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T13:13:19Z","timestamp":1762521199697},"reference-count":30,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2008,1,17]],"date-time":"2008-01-17T00:00:00Z","timestamp":1200528000000},"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":[[2008,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital diaphragmatic hernia (CDH) is a disorder of the development of the lung and diaphragm and is associated with pulmonary hypoplasia and pulmonary hypertension. Denys\u2013Drash syndrome (DDS) is a well\u2010known syndrome caused by several different germline mutations in the WT1\u2010gene. CDH in DDS is rare. We present the third case of CDH with clinical features of DDS and the same, rare Arg366His mutation in the WT1\u2010gene, as reported in the other two known cases. This report provides additional evidence that WT1 mutations can result in diaphragmatic hernia. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32168","type":"journal-article","created":{"date-parts":[[2008,1,17]],"date-time":"2008-01-17T22:48:49Z","timestamp":1200610129000},"page":"496-499","source":"Crossref","is-referenced-by-count":35,"title":["Denys\u2013Drash syndrome and congenital diaphragmatic hernia: Another case with the 1097G\u2009&gt;\u2009A(Arg366His) mutation"],"prefix":"10.1002","volume":"146A","author":[{"given":"Timothy","family":"Antonius","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bregje","family":"van Bon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alex","family":"Eggink","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ineke","family":"van der Burgt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kees","family":"Noordam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arno","family":"van Heijst","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,1,17]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/1.5.301"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1297-467"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.1870110702"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0592-144"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01995855"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-006-0273-5"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80839-X"},{"key":"e_1_2_4_9_1","first-page":"729","article-title":"Association d'un syndrome anatomopathologique de pseudohermaphroditisme masculin, d'une tumeur de Wilms, d'une nephropathie parenchymateuse et d'une mosaicicme XX\/XY","volume":"24","author":"Denys P","year":"1967","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.1711"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570120"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004670000537"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(70)80409-7"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(64)80622-3"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.2688"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.1.45"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200201000-00005"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.4.709"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90515-R"},{"key":"e_1_2_4_20_1","first-page":"71","article-title":"Denys\u2013Drash syndrome","volume":"103","author":"Lin H","year":"2004","journal-title":"J Formos Med Assoc"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)9:3<209::AID-HUMU2>3.0.CO;2-2"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004670000541"},{"key":"e_1_2_4_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(96)90338-3"},{"key":"e_1_2_4_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280535"},{"key":"e_1_2_4_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02766923"},{"key":"e_1_2_4_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(96)90412-1"},{"key":"e_1_2_4_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90194-4"},{"key":"e_1_2_4_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/346194a0"},{"key":"e_1_2_4_29_1","unstructured":"ReardonW SmithS SuriM GrantJ O'NeillD KelehanD FitzpatrickD HastieND.2004.WT1mutation is a cause of congenital diaphragmatic hernia associated with Meacham syndrome. 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