{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T20:39:42Z","timestamp":1778704782067,"version":"3.51.4"},"reference-count":36,"publisher":"S. Karger AG","issue":"5","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":["Horm Res Paediatr"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;\/i&gt;&lt;\/b&gt; The aim of our study was to describe a large population with anomalies involving the &lt;i&gt;SHOX&lt;\/i&gt; region, responsible for idiopathic short stature and L\u00e9ri-Weill dyschondrosteosis (LWD), and to identify a possible genotype\/phenotype correlation. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; We performed a retrospective multicenter study on French subjects with a &lt;i&gt;SHOX&lt;\/i&gt; region anomaly diagnosed by multiplex ligation-dependent probe amplification or Sanger sequencing. Phenotypes were collected in each of the 7 genetic laboratories practicing this technique for &lt;i&gt;SHOX&lt;\/i&gt; analysis. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; Among 205 index cases and 100 related cases, 91.3% had LWD. For index cases, median age at evaluation was 11.7 (9.0; 15.9) years and mean height standard deviation score was -2.3 \u00b1 1.1. A deletion of either &lt;i&gt;SHOX&lt;\/i&gt; or PAR1 or both was found in 74% of patients. Duplications and point mutations\/indels affected 8 and 18% of the population, respectively. Genotype-phenotype correlation showed that deletions were more frequently associated with Madelung deformity and mesomelic shortening in girls, as well as with presence of radiologic anomalies, than duplications. &lt;b&gt;&lt;i&gt;Conclusions:&lt;\/i&gt;&lt;\/b&gt; Our results highlight genotype-phenotype relationships in the French population with a &lt;i&gt;SHOX&lt;\/i&gt; defect and provide new information showing that clinical expression is milder in cases of duplication compared to deletions.<\/jats:p>","DOI":"10.1159\/000448282","type":"journal-article","created":{"date-parts":[[2016,9,27]],"date-time":"2016-09-27T21:12:25Z","timestamp":1475010745000},"page":"309-318","source":"Crossref","is-referenced-by-count":6,"title":["Genotype-Phenotype Relationship in Patients and Relatives with &lt;b&gt;&lt;i&gt;SHOX&lt;\/i&gt;&lt;\/b&gt; Region Anomalies in the French Population"],"prefix":"10.1159","volume":"86","author":[{"given":"Julie","family":"Auger","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amandine","family":"Baptiste","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imane","family":"Benabbad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ga\u00eblle","family":"Thierry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Marc","family":"Costa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e9lanie","family":"Amouyal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3192-9851","authenticated-orcid":false,"given":"Marie-Laure","family":"Kottler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Leheup","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renaud","family":"Touraine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00e9bastien","family":"Schmitt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marine","family":"Lebrun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Cormier Daire","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Paul","family":"Bonnefont","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolas","family":"de Roux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Elie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myriam","family":"Rosilio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2016,9,28]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.203"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0098543"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M307006200"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/ng0597-54"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1086\/449313"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.067785"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl470"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.1.1"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.046581"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1297\/cpe.23.65"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-0509"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.87.3.8328"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1159\/000324105"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-67"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.5.323"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-1689"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32914"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.86.12.8125"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-3460"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gnf056"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9456"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0074-5"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050504"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1159\/000354989"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.040998"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-1222"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.06.001"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37524"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103621"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.210"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100678"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.14310\/horm.2002.11174"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.64"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20542"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-87"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36724"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/448282","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/448282","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:01:48Z","timestamp":1745427708000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000448282"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":36,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2016,12,21]]}},"URL":"https:\/\/doi.org\/10.1159\/000448282","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.3860283","asserted-by":"subject"}]},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016]]}}}