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Karger AG","issue":"4","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2012]]},"abstract":"<jats:p>We present a case of a 9-month-old Hispanic female with Kabuki syndrome with some infrequent manifestations including a single umbilical artery, butterfly vertebrae, a small larynx, a preauricular pit, microtia with internal ear abnormalities, abnormal calcium metabolism, premature thelarche, neonatal\/persistent hypoglycemia and eventration of the diaphragm. She was found to have a previously unreported nonsense &lt;i&gt;MLL2&lt;\/i&gt; mutation. This is the first case that includes all such findings occurring simultaneously that was genotyped.<\/jats:p>","DOI":"10.1159\/000342253","type":"journal-article","created":{"date-parts":[[2012,8,30]],"date-time":"2012-08-30T10:46:25Z","timestamp":1346323585000},"page":"180-184","source":"Crossref","is-referenced-by-count":24,"title":["Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel &lt;b&gt;&lt;i&gt;MLL2&lt;\/i&gt;&lt;\/b&gt; Mutation"],"prefix":"10.1159","volume":"3","author":[{"given":"Y.A.","family":"Zarate","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Zhan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.R.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2012,8,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.2004.00348.x"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jmb.2011.05.050"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.30340"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038%2Fejhg.2011.220"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1515%2FJPEM.2001.14.2.215"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2820000313%2991%3A2%3C164%3A%3AAID-AJMG19%3E3.0.CO%3B2-E"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C362%3A%3AAID-AJMG11%3E3.0.CO%3B2-W"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.30144"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1242%2Fdev.02302"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1186%2F1756-8935-2-5"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.34074"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1128%2FMCB.01506-06"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.32.3.227"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1515%2FJPEM.2005.18.6.607"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ydbio.2010.04.024"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1186%2F1750-1172-6-38"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.M513245200"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038%2Fng.646"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016%2FS0022-3476%2881%2980255-7"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.21416"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1097%2F00019605-199204000-00001"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1002%2F1096-8628%2820000911%2994%3A2%3C170%3A%3AAID-AJMG10%3E3.0.CO%3B2-2"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.30336"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1002%2Fbdra.10086"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819980901%2979%3A2%3C112%3A%3AAID-AJMG7%3E3.0.CO%3B2-S"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/342253","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/342253","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:45:44Z","timestamp":1745433944000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000342253"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"references-count":25,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2012,10,1]]},"published-print":{"date-parts":[[2012,10,19]]}},"URL":"https:\/\/doi.org\/10.1159\/000342253","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2012]]}}}