{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T13:05:15Z","timestamp":1790168715740,"version":"4.1.0"},"reference-count":38,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,9,6]],"date-time":"2026-09-06T00:00:00Z","timestamp":1788652800000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>To elucidate the genetic underpinnings of short stature in a familial cohort of five individuals.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A family with a history of short stature from Zhongnan Hospital of Wuhan University was the subject of this study. Peripheral blood samples were collected from family members for whole exome sequencing and Sanger sequencing to identify genetic anomalies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The male proband, aged 3\u2009years and 10\u2009months, had significant growth retardation, with a height of 91\u2009cm (&lt;\u20093rd percentile) and a weight of 13\u2009kg (&lt;\u20093rd percentile). Whole exome sequencing identified a missense mutation in the\n                      <jats:italic>COL1A2<\/jats:italic>\n                      gene (c.577G&gt;A, p.Gly193Ser) with maternal inheritance. Sanger sequencing confirmed this mutation in the mother and half\u2010sister. According to American College of Medical Genetics and Genomics (ACMG) guidelines, this variant was classified as likely pathogenic. Additionally, a heterozygous mutation in the\n                      <jats:italic>GH1<\/jats:italic>\n                      gene (c.291+1G&gt;A) was detected in the father and grandfather, contributing to the familial short stature phenotype.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      In this family, we identified that variants in the\n                      <jats:italic>COL1A2<\/jats:italic>\n                      and the\n                      <jats:italic>GH1<\/jats:italic>\n                      can each cause short stature. This reflects both the genetic consistency and complexity of short stature, which is highly dependent on comprehensive genetic testing.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70288","type":"journal-article","created":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T10:35:51Z","timestamp":1788777351000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Analysis of Genetic Factors in a Family With Short Stature"],"prefix":"10.1002","volume":"14","author":[{"given":"Siqing","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Pediatrics Zhongnan Hospital of Wuhan University  Wuhan Hubei China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tian","family":"Zuo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Zhongnan Hospital of Wuhan University  Wuhan Hubei 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