{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T01:54:31Z","timestamp":1790992471610,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T00:00:00Z","timestamp":1790899200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T00:00:00Z","timestamp":1790899200000},"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":["Clinical Genetics"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Heterozygous\n                    <jats:italic>ACAN<\/jats:italic>\n                    variants are a major monogenic cause of short stature (SS). We reported a 7\u2009years and 11\u2009months Chinese girl with SS, advanced bone age (BA), and asymptomatic knee osteochondritis dissecans. Targeted next generation sequencing identified a novel paternally inherited heterozygous\n                    <jats:italic>ACAN<\/jats:italic>\n                    missense variant c.547G&gt;C within the G1 domain, classified as likely pathogenic per ACMG standards. Recombinant human growth hormone (rhGH) induced robust early catch up growth followed by reduced growth velocity, and the patient remains under follow up. This case expands the aggrecanopathy variant spectrum and supports routine\n                    <jats:italic>ACAN<\/jats:italic>\n                    screening in children with unexplained SS, accelerated BA, and osteochondral lesions.\n                  <\/jats:p>","DOI":"10.1111\/cge.70241","type":"journal-article","created":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T01:41:02Z","timestamp":1790991662000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel\n                    <scp>\n                      <i>ACAN<\/i>\n                    <\/scp>\n                    Missense Variant in the\n                    <scp>G1<\/scp>\n                    Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review"],"prefix":"10.1111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9826-7971","authenticated-orcid":false,"given":"Cuilan","family":"Lin","sequence":"first","affiliation":[{"name":"The Second School of Clinical Medicine Southern Medical University  Guangzhou Guangdong China"},{"name":"Bo'ai Hospital of Zhongshan  Zhongshan Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7529-3026","authenticated-orcid":false,"given":"Dongxue","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The Chinese University of HongKong, Shenzhen Medical Centre  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Lai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The Chinese University of HongKong, Shenzhen Medical Centre  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simao","family":"Fu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The Chinese University of HongKong, Shenzhen Medical Centre  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,2]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.0578\u20101310.2008.06.107"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ped4.12233"},{"issue":"8","key":"e_1_2_10_4_1","first-page":"730","article-title":"Etiology and Bone Age of 2132 Children With Short Stature","volume":"33","author":"Wu S.","year":"2015","journal-title":"Journal of Clinical 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