{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T19:08:09Z","timestamp":1769022489321,"version":"3.49.0"},"reference-count":20,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"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":[[2019]]},"abstract":"M\u00fcllerian anomalies comprise the Mayer-Rokitansky-K\u00fcster-Hauser syndrome as well as fusion defects of the m\u00fcllerian ducts. Recurrent micro-aberrations like deletions in 16p11.2 encompassing <i>TBX6<\/i> were found to be causative in these patients. <i>TBX6<\/i> encodes a transcription factor which plays a role in paraxial mesoderm differentiation\/specification. In previous studies, we and other groups found possibly pathogenic variants in <i>TBX6<\/i> in patients with m\u00fcllerian anomalies. Since we suggested <i>TBX6<\/i> as a strong candidate, we performed sequential analysis of the <i>TBX6 <\/i>gene in additional 125 patients with m\u00fcllerian anomalies, and 2 possibly pathogenic missense variants and 1 nonsense substitution in <i>TBX6<\/i> in 4\/125 patients were found. The missense variant c.484G>A, which we have described in a previous study, was reidentified but with no higher frequency as in our controls. We detected 3 possibly pathogenic variants in <i>TBX6<\/i> and could show that the variant c.484G>A is not causative for disorders of the m\u00fcllerian ducts in the non-Finnish European population. In summary, we present increasing evidence for association of variants in <i>TBX6<\/i> with malformations of the m\u00fcllerian ducts.<\/jats:p>","DOI":"10.1159\/000496819","type":"journal-article","created":{"date-parts":[[2019,2,8]],"date-time":"2019-02-08T22:02:32Z","timestamp":1549663352000},"page":"35-40","source":"Crossref","is-referenced-by-count":12,"title":["Sequence Variants in <b><i>TBX6<\/i><\/b> Are Associated with Disorders of the M\u00fcllerian Ducts: An Update"],"prefix":"10.1159","volume":"13","author":[{"given":"Ann-Christin","family":"Tewes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00fcrgen","family":"Hucke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"R\u00f6mer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karina","family":"Kapczuk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cordula","family":"Schippert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Hillemanns","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Wieacker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne","family":"Ledig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2019,2,9]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa040533"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000904)94:1<9::AID-AJMG3>3.0.CO;2-H"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/35624"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkr974"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1097\/BRS.0b013e3181bc963c"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.rbmo.2015.09.006"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0002511"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s00508-008-0995-4"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2010.07.1062"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13160"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-13"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.082412"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2014.10.053"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-125"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt012"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2015.02.014"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016\/j.rbmo.2013.09.022"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12701"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(02)00394-5"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2002-3-6-reviews3008"}],"container-title":["Sexual Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/496819","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/496819","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:12:52Z","timestamp":1745424772000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000496819"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019]]},"references-count":20,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2019,4,4]]},"published-print":{"date-parts":[[2019,3,19]]}},"URL":"https:\/\/doi.org\/10.1159\/000496819","archive":["Portico"],"relation":{},"ISSN":["1661-5425","1661-5433"],"issn-type":[{"value":"1661-5425","type":"print"},{"value":"1661-5433","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019]]}}}