{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:44:28Z","timestamp":1787013868143,"version":"build-2736575974"},"reference-count":30,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,7,20]],"date-time":"2017-07-20T00:00:00Z","timestamp":1500508800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Danish Research Council","award":["DFF-4092-00159"],"award-info":[{"award-number":["DFF-4092-00159"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Paediatrica"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>\n                      The short stature homeobox\u2010containing gene (\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">SHOX<\/jats:styled-content>\n                      <\/jats:italic>\n                      ) plays an important role in short stature, but has not been explored in detail in a tall stature population before. This study explored the prevalence of\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">SHOX<\/jats:styled-content>\n                      <\/jats:italic>\n                      aberrations in girls diagnosed with idiopathic tall stature with a normal karyotype.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We studied\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">SHOX<\/jats:styled-content>\n                      <\/jats:italic>\n                      aberrations in 81 girls with a median age of 10.43 (7.17\u201312.73) years diagnosed with tall stature who were referred to our clinic at Copenhagen University Hospital, Denmark, between 2003 and 2013.\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">SHOX<\/jats:styled-content>\n                      <\/jats:italic>\n                      copy variations were analysed by quantitative polymerase chain reaction, and aberrations were confirmed by multiplex ligation probe\u2010dependent amplification.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      One extra\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">SHOX<\/jats:styled-content>\n                      <\/jats:italic>\n                      copy was found in three (3.7%) of the 81 girls with tall stature, and their heights were 2.87, 3.71 and 3.98 standard deviation scores (\n                      <jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content>\n                      ) and above the median height\n                      <jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content>\n                      of the girls with two\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">SHOX<\/jats:styled-content>\n                      <\/jats:italic>\n                      copies. Their sitting height\/height ratios (\u22123.08, \u22122.00 and \u22122.18\n                      <jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content>\n                      ) were all lower than the population mean. Despite these\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">SHOX<\/jats:styled-content>\n                      <\/jats:italic>\n                      duplications, the three girls were clinically and biochemically comparable to the 78 girls with two\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">SHOX<\/jats:styled-content>\n                      <\/jats:italic>\n                      copies.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study was the first to demonstrate\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">SHOX<\/jats:styled-content>\n                      <\/jats:italic>\n                      duplications in three girls with tall stature and normal karyotypes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/apa.13969","type":"journal-article","created":{"date-parts":[[2017,7,1]],"date-time":"2017-07-01T10:22:38Z","timestamp":1498904558000},"page":"1651-1657","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Short stature homeobox\u2010containing gene duplications in 3.7% of girls with\u00a0tall stature and normal karyotypes"],"prefix":"10.1111","volume":"106","author":[{"given":"Emmie N.","family":"Upners","sequence":"first","affiliation":[{"name":"Department of Growth and Reproduction Rigshospitalet University of Copenhagen Copenhagen Denmark"},{"name":"International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC) Rigshospitalet University of Copenhagen Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rikke B.","family":"Jensen","sequence":"additional","affiliation":[{"name":"Department of Growth and Reproduction Rigshospitalet University of Copenhagen Copenhagen Denmark"},{"name":"International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC) Rigshospitalet University of Copenhagen Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Rajpert\u2010De Meyts","sequence":"additional","affiliation":[{"name":"Department of Growth and Reproduction Rigshospitalet University of Copenhagen Copenhagen Denmark"},{"name":"International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC) Rigshospitalet University of Copenhagen Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morten","family":"Dun\u00f8","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Rigshospitalet University of Copenhagen Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lise","family":"Aksglaede","sequence":"additional","affiliation":[{"name":"Department of Growth and Reproduction Rigshospitalet University of Copenhagen Copenhagen Denmark"},{"name":"International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC) Rigshospitalet University of Copenhagen Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anders","family":"Juul","sequence":"additional","affiliation":[{"name":"Department of Growth and Reproduction Rigshospitalet University of Copenhagen Copenhagen Denmark"},{"name":"International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC) Rigshospitalet University of Copenhagen Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,7,20]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.19.5.540"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2016.128"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3097"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0597-54"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2016.233"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000309418"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33334"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.8.2927"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/apa.12468"},{"key":"e_1_2_10_11_1","first-page":"6876","article-title":"[Body proportions of Danish children. 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