{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:13:44Z","timestamp":1761718424760,"version":"3.40.4"},"reference-count":19,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sex Dev"],"published-print":{"date-parts":[[2015]]},"abstract":"We report the case of a female patient suffering from a 46,XY disorder of sexual development (DSD) with complete gonadal dysgenesis and Wiedemann-Steiner Syndrome (WDSTS). The coexistence of these 2 conditions has not yet been reported. Using whole exome sequencing and comparative genome hybridization array, we identified a de novo <i>MLL\/KMT2A<\/i> gene nonsense mutation which explains the WDSTS phenotype. In addition, we discovered novel genetic variants, which could explain the testicular dysgenesis observed in the patient, a maternally inherited 167-kb duplication of <i>DAAM2<\/i> and <i>MOCS1<\/i> genes and a de novo<i> LRRC33\/NRROS<\/i> gene mutation. These genes, some of which are expressed during mouse gonadal development, could be considered as potentially new candidate genes for DSD.<\/jats:p>","DOI":"10.1159\/000441512","type":"journal-article","created":{"date-parts":[[2015,11,6]],"date-time":"2015-11-06T22:01:21Z","timestamp":1446847281000},"page":"289-295","source":"Crossref","is-referenced-by-count":13,"title":["A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis"],"prefix":"10.1159","volume":"9","author":[{"given":"Pierre","family":"Calvel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamila","family":"Kusz-Zamelczyk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Periklis","family":"Makrythanasis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damian","family":"Janecki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christelle","family":"Borel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9atrice","family":"Conne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Vannier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fr\u00e9d\u00e9rique","family":"B\u00e9na","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefania","family":"Gimelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piotr","family":"Fichna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stylianos E.","family":"Antonarakis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serge","family":"Nef","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jadwiga","family":"Jaruzelska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2015,11,7]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004340"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.217"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002575"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00591"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.008"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2011.10.025"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2013.03.071"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1086\/500306"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36590"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(02)00741-4"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36072"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2005.09.008"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.06.013"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1101\/gr.163832.113"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-49"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1189\/jlb.0813457"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks596"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038\/17068"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-801238-3.06072-4"}],"container-title":["Sexual Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/441512","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/441512","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:01:47Z","timestamp":1745431307000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000441512"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":19,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2016,2,1]]},"published-print":{"date-parts":[[2016,2,2]]}},"URL":"https:\/\/doi.org\/10.1159\/000441512","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.5128945","asserted-by":"subject"}]},"ISSN":["1661-5425","1661-5433"],"issn-type":[{"type":"print","value":"1661-5425"},{"type":"electronic","value":"1661-5433"}],"subject":[],"published":{"date-parts":[[2015]]}}}