{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,23]],"date-time":"2025-08-23T05:00:09Z","timestamp":1755925209841,"version":"3.40.4"},"reference-count":10,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2003,1,1]],"date-time":"2003-01-01T00:00:00Z","timestamp":1041379200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2003,1,1]],"date-time":"2003-01-01T00:00:00Z","timestamp":1041379200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2003]]},"abstract":"<i>Objective:<\/i> Frasier syndrome is characterized by progressive glomerulopathy due to nonspecific focal and segmental glomerulosclerosis (FSGS), 46,XY sex reversal and the development of gonadoblastoma from dysgenetic gonads. Donor splice site heterozygous mutations in intron 9 of the Wilms\u2019 tumor gene <i>(WT1)<\/i> cause this disease. We investigated whether <i>WT1<\/i> mutations showed clinical heterogeneity. <i>Patients and Methods:<\/i> A 6-year-old phenotypic boy was diagnosed as having FSGS. His karyotype was 46,XY. Gonadotropin-releasing hormone and human chorionic gonadotropin stimulation tests revealed normal luteinizing hormone, follicle-stimulating hormone and testosterone responses. The other patient was a 7-year-old 46,XY female with FSGS. Prophylactic gonadectomy was performed and gonadoblastoma was found. By polymerase chain reaction and direct sequencing, <i>WT1<\/i> was analyzed in these patients. <i>Results and Conclusion:<\/i> Both patients had IVS9 + 5G\u2192A in intron 9 of the <i>WT1.<\/i> Our study indicates a normal 46,XY phenotypic male patient with FSGS. The phenotypic variations of the <i>WT1<\/i> splice site mutations are further expanded.<\/jats:p>","DOI":"10.1159\/000074249","type":"journal-article","created":{"date-parts":[[2003,12,19]],"date-time":"2003-12-19T09:25:47Z","timestamp":1071825947000},"page":"302-305","source":"Crossref","is-referenced-by-count":5,"title":["46,XY Phenotypic Male with Focal Segmental Glomerulosclerosis Caused by the <i>WT1<\/i> Splice Site Mutation"],"prefix":"10.1159","volume":"60","author":[{"given":"Toshihiro","family":"Tajima","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Sasaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yayoi","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Kusunoki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Testuro","family":"Nagashima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsuya","family":"Nonomura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Fujieda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2003,11,28]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90601-A"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90194-4"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/ng0592-144"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/ng1297-467"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.1998.00948.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:2<146::AID-HUMU7>3.3.CO;2-9"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(199912)14:6<466::AID-HUMU4>3.0.CO;2-6"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2000.00036.x"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1210\/jc.87.6.2500"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1210\/jc.82.11.3835"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/74249","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/74249","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:51:21Z","timestamp":1745466681000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000074249"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003]]},"references-count":10,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2003,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000074249","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2003]]}}}