{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T06:47:10Z","timestamp":1769755630057,"version":"3.49.0"},"reference-count":45,"publisher":"S. Karger AG","issue":"1","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>Patients with Kallmann syndrome (KS; congenital hypogonadotropic hypogonadism and decreased\/absent sense of smell), septo-optic dysplasia (SOD), or holoprosencephaly (HPE) reportedly have midline defects. In this study, we investigate a genetic overlap between KS, SOD, and HPE. Nineteen subjects (18 males, 1 female) with KS and without mutations in the known KS genes were screened for mutations in &lt;i&gt;SOX2, SHH, SIX3,&lt;\/i&gt;&lt;i&gt;TGIF1,&lt;\/i&gt;&lt;i&gt;TDGF1,&lt;\/i&gt;&lt;i&gt;FOXH1,&lt;\/i&gt;&lt;i&gt;GLI2&lt;\/i&gt;, and &lt;i&gt;GLI3.&lt;\/i&gt; One male carried 2 heterozygous missense changes, one in &lt;i&gt;SIX3&lt;\/i&gt; (c.428G&gt;A, p.G143D) and the other in &lt;i&gt;GLI2&lt;\/i&gt; (c.2509G&gt;A, p.E837K). Both of these genes have been implicated in the etiology of HPE and neither of these changes were present in 200 control subjects. Other variants found among the subjects were known polymorphisms. KS and HPE may display a genetic overlap. The involvement of genes implicated in the etiology of midline defects in patients with KS warrants further studies.<\/jats:p>","DOI":"10.1159\/000338706","type":"journal-article","created":{"date-parts":[[2012,6,12]],"date-time":"2012-06-12T10:03:09Z","timestamp":1339495389000},"page":"1-5","source":"Crossref","is-referenced-by-count":28,"title":["Genetic Overlap between Holoprosencephaly and Kallmann Syndrome"],"prefix":"10.1159","volume":"3","author":[{"given":"K.","family":"Vaaralahti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Raivio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Koivu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Valanne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.-M.","family":"Laitinen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Tommiska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2012,5,16]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038%2Fnmeth0410-248"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1159%2F000302285"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1196-353"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038%2Fnrendo.2009.177"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00018-005-5604-3"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002%2Fbdra.20295"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038%2F477"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00439-002-0709-3"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1159%2F000104278"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1122"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1371%2Fjournal.pgen.0020175"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1186%2F1750-1172-2-8"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038%2Fng.825"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI34538"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2010-1050"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1038%2F353529a0"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038%2F76074"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0397-266"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ajhg.2008.09.005"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ajhg.2010.08.018"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1186%2F1750-1172-6-41"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.30110"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1016%2F0092-8674%2891%2990193-3"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1093%2Fbioinformatics%2Fbtp528"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.beem.2010.06.008"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2011-0454"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.0707173104"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI29884"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2009-0179"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.2235734100"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ajhg.2008.05.012"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ymgme.2012.01.005"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1530%2FEJE-06-0606"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1016%2F0169-328X%2889%2990076-4"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1210%2Fer.19.5.521"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2265.2009.03687.x"},{"key":"ref37","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2010-2292"},{"key":"ref38","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.c.30240"},{"key":"ref39","doi-asserted-by":"publisher","DOI":"10.1038%2Fejhg.2011.11"},{"key":"ref40","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.1009622107"},{"key":"ref41","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI43699"},{"key":"ref42","doi-asserted-by":"publisher","DOI":"10.1006%2Fmgme.1999.2895"},{"key":"ref43","doi-asserted-by":"publisher","DOI":"10.1038%2Fejhg.2009.125"},{"key":"ref44","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.20654"},{"key":"ref45","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2Fddl064"}],"container-title":["Molecular 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