{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T18:43:55Z","timestamp":1778784235229,"version":"3.51.4"},"reference-count":28,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2009,6,16]],"date-time":"2009-06-16T00:00:00Z","timestamp":1245110400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Deletions of the <jats:italic>SHOX<\/jats:italic> gene are well documented and cause disproportionate short stature and variable skeletal abnormalities. In contrast interstitial <jats:italic>SHOX<\/jats:italic> duplications limited to PAR1 appear to be very rare and the clinical significance of the only case report in the literature is unclear. Mapping of this duplication has now shown that it includes the entire <jats:italic>SHOX<\/jats:italic> gene but little flanking sequence and so will not encompass any of the long\u2010range enhancers required for <jats:italic>SHOX<\/jats:italic> transcription. We now describe the clinical and molecular characterization of three additional cases. The duplications all included the <jats:italic>SHOX<\/jats:italic> coding sequence but varied in the amount of flanking sequence involved. The probands were ascertained for a variety of reasons: hypotonia and features of Asperger syndrome, Leri\u2013Weill dyschondrosteosis (LWD), and a family history of cleft palate. However, the presence of a duplication did not correlate with any of these features or with evidence of skeletal abnormality. Remarkably, the proband with LWD had inherited both a <jats:italic>SHOX<\/jats:italic> deletion and a duplication. The effect of the duplications on stature was variable: height appeared to be elevated in some carriers, particularly in those with the largest duplications, but was still within the normal range. <jats:italic>SHOX<\/jats:italic> duplications are likely to be under ascertained and more cases need to be identified and characterized in detail in order to accurately determine their phenotypic consequences. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32914","type":"journal-article","created":{"date-parts":[[2009,6,16]],"date-time":"2009-06-16T22:53:02Z","timestamp":1245192782000},"page":"1407-1414","source":"Crossref","is-referenced-by-count":42,"title":["Clinical and molecular characterization of duplications encompassing the human <i>SHOX<\/i> gene reveal a variable effect on stature"],"prefix":"10.1002","volume":"149A","author":[{"given":"N. Simon","family":"Thomas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John F.","family":"Harvey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.","family":"Bunyan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Rankin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giedre","family":"Grigelioniene","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damien L.","family":"Bruno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiong Y.","family":"Tan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Tomkins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Hastings","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,6,16]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2002.01504.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/449313"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/506390"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9456"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2001.110277"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M306685200"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32036"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.8.1341"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.51.197"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30852"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/499254"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-008-0269-z"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000352"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-001-0609-y"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1976.tb14761.x"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.84.12.6289"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M307006200"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1142\/S0218810401000424"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-032230"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.8.2927"},{"key":"e_1_2_7_22_1","first-page":"1","volume":"38","author":"Ogata T","year":"2001","journal-title":"SHOX haploinsufficiency and over\u2010dosage: Impact of gonadal function status. 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