{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:56:56Z","timestamp":1787241416852,"version":"build-2736575974"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,9]],"date-time":"2005-06-09T00:00:00Z","timestamp":1118275200000},"content-version":"vor","delay-in-days":3671,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,5,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We report on a newborn infant with male pseudohermaphroditism and glomerular lesions (Denys\u2010Drash syndrome) but without Wilms tumor. A constitutional heterozygous mutation in the WT1 gene (\n                    <jats:sup>366<\/jats:sup>\n                    Arg to His) was identified. In addition the child had a large diaphragmatic hernia, so far not described in Denys\u2010Drash syndrome. The expression of the WT1 gene in pleural and abdominal mesothelium and the occurrence of diaphragmatic hernia in transgenic mice with a homozygous WT1 deletion strongly suggests that the diaphragmatic hernia in this patient is part of the malformation pattern caused by WT1 mutations. \u00a9 1995 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.1320570120","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T09:31:34Z","timestamp":1118482294000},"page":"97-101","source":"Crossref","is-referenced-by-count":71,"title":["Diaphragmatic hernia in Denys\u2010Drash syndrome"],"prefix":"10.1002","volume":"57","author":[{"given":"Koenraad","family":"Devriendt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Els","family":"Deloof","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Moerman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Legius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Vanhole","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis","family":"De Zegher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Willem","family":"Proesmans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugo","family":"Devlieger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/1.5.301"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.13.4028"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1096\/fasebj.7.10.8393819"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80839-X"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82884-7"},{"key":"e_1_2_1_7_1","first-page":"729","article-title":"Association d'un syndrome anatomopathologique de pseudohermaphroditisme masculin, d'une tumeur de Wilms, d'une n\u00e9phropathie parenchymateuse et d'une mosa\u00efcicme XX\/XY","volume":"24","author":"Denys P","year":"1967","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(70)80409-7"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1323141"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/1.5.293"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)38582-8"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90515-R"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.3.259"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1293-408"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/362749a0"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1293-363"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90194-4"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/346194a0"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/362747a0"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/317258a0"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1093-143"},{"key":"e_1_2_1_22_1","volume-title":"London Dysmorphology Database.","author":"Winter RM","year":"1990"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320570120","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320570120","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T21:09:45Z","timestamp":1698268185000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320570120"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,5,22]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1995,5,22]]}},"alternative-id":["10.1002\/ajmg.1320570120"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320570120","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,5,22]]}}}