{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T12:52:35Z","timestamp":1762865555571},"reference-count":16,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2009,8,3]],"date-time":"2009-08-03T00:00:00Z","timestamp":1249257600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2009,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Frasier syndrome is characterized by a 46 XY disorder of sex development, nephropathy, and increased risk for gonadoblastoma due to Wilms tumor 1(<jats:italic>WT1<\/jats:italic>) mutation in the donor splice site of intron\u20109, resulting in the splice form +KTS. Germ cell tumors and gonadoblastomas have been reported previously in Frasier syndrome. We present the clinical, radiological, and genetic (<jats:italic>WT1<\/jats:italic> mutation analysis) of a 46 XY phenotypic female with Frasier syndrome with bilateral gonadoblastoma with dysgerminoma who developed pilocytic astrocytoma. Pediatr Blood Cancer 2009; 53:1349\u20131351. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/pbc.22152","type":"journal-article","created":{"date-parts":[[2009,8,3]],"date-time":"2009-08-03T17:34:22Z","timestamp":1249320862000},"page":"1349-1351","source":"Crossref","is-referenced-by-count":12,"title":["Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with <i>WT1<\/i> GT\u2010IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome"],"prefix":"10.1002","volume":"53","author":[{"given":"Vivek","family":"Subbiah","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vicki","family":"Huff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes E.A.","family":"Wolff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leena","family":"Ketonen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr","given":"Frederick F.","family":"Lang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Stewart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren","family":"Langford","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia E.","family":"Herzog","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,8,3]]},"reference":[{"key":"e_1_2_4_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1297-467"},{"key":"e_1_2_4_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.4.709"},{"key":"e_1_2_4_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(64)80622-3"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1159\/000049974"},{"key":"e_1_2_4_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20553"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-2115(03)00088-5"},{"key":"e_1_2_4_8_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2000.00036.x"},{"key":"e_1_2_4_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0303-7207(01)00460-9"},{"key":"e_1_2_4_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30015"},{"key":"e_1_2_4_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90515-R"},{"key":"e_1_2_4_12_2","volume-title":"WHO classification of tumours of the nervous system","author":"Louis D","year":"2007"},{"key":"e_1_2_4_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-007-0243-4"},{"key":"e_1_2_4_14_2","doi-asserted-by":"publisher","DOI":"10.3171\/jns.2003.98.6.1170"},{"key":"e_1_2_4_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19930815)72:4<1335::AID-CNCR2820720431>3.0.CO;2-E"},{"key":"e_1_2_4_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02482185"},{"key":"e_1_2_4_17_2","doi-asserted-by":"publisher","DOI":"10.3171\/JNS-07\/09\/0586"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.22152","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.22152","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.22152","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T23:11:59Z","timestamp":1697670719000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.22152"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,8,3]]},"references-count":16,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2009,12,15]]}},"alternative-id":["10.1002\/pbc.22152"],"URL":"https:\/\/doi.org\/10.1002\/pbc.22152","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,8,3]]}}}