{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T17:40:30Z","timestamp":1789753230435,"version":"4.0.1"},"reference-count":14,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"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":[[2016]]},"abstract":"<jats:p>The phenotypic spectrum of patients carrying &lt;i&gt;NR5A1&lt;\/i&gt; mutations ranges from 46,XY gonadal dysgenesis to male infertility. Phenotypic variability could be due to digenic or oligogenic inheritance of pathogenic variants in other testis-determining genes. Here, exome sequencing identified 2 pathogenic de novo &lt;i&gt;NR5A1&lt;\/i&gt; mutations in 2 patients with 46,XY gonadal dysgenesis, p.Q206Tfs*20 and p.Arg313Cys. The latter patient also carried a missense mutation in &lt;i&gt;MAP3K1&lt;\/i&gt;. Our data extend the number of &lt;i&gt;NR5A1 &lt;\/i&gt;gene mutations associated with gonadal dysgenesis. The combination of an &lt;i&gt;NR5A1&lt;\/i&gt; mutation with a &lt;i&gt;MAP3K1&lt;\/i&gt; variant may explain the phenotypic variability associated with &lt;i&gt;NR5A1&lt;\/i&gt; mutations.<\/jats:p>","DOI":"10.1159\/000445983","type":"journal-article","created":{"date-parts":[[2016,5,11]],"date-time":"2016-05-11T17:04:21Z","timestamp":1462986261000},"page":"147-151","source":"Crossref","is-referenced-by-count":45,"title":["Identification of &lt;b&gt;&lt;i&gt;NR5A1&lt;\/i&gt;&lt;\/b&gt; Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis"],"prefix":"10.1159","volume":"10","author":[{"given":"Inas","family":"Mazen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed","family":"Abdel-Hamid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona","family":"Mekkawy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00eblle","family":"Bignon-Topalovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radia","family":"Boudjenah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona","family":"El Gammal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona","family":"Essawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anu","family":"Bashamboo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"McElreavey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2016,5,12]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0024117"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1159\/000342188"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.09.009"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu074"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.4103\/0971-6866.124372"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1324720"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpurol.2006.03.004"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201649"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt502"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0806228"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.3032"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.11.003"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dem278"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/cdd.2014.239"}],"container-title":["Sexual Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/445983","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/445983","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/445983","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T14:03:47Z","timestamp":1745417027000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000445983"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":14,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2016,9,20]]}},"URL":"https:\/\/doi.org\/10.1159\/000445983","archive":["Portico"],"relation":{},"ISSN":["1661-5425","1661-5433"],"issn-type":[{"value":"1661-5425","type":"print"},{"value":"1661-5433","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016]]}}}