{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T11:10:29Z","timestamp":1784977829448,"version":"3.55.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"2","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:p>Short stature is one of the most common causes for referrals to pediatric endocrinologists. However, in a majority of the children, no underlying cause can be identified and the child instead receives the unhelpful diagnosis of idiopathic short stature (ISS), often after extensive work-up and testing. Recent advances in genetic methodology have allowed for the identification of a number of different monogenic conditions within the large cohort of ISS children. Isolated short stature and advanced bone age, with or without early-onset osteoarthritis and\/or osteochondritis dissecans (MIM#165800) due to heterozygous aggrecan gene mutations exemplifies how this progress is changing the way we assess, counsel and treat children with non-endocrine growth disorders.<\/jats:p>","DOI":"10.1530\/eje-20-0420","type":"journal-article","created":{"date-parts":[[2020,5,15]],"date-time":"2020-05-15T17:47:40Z","timestamp":1589564860000},"page":"C9-C10","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-7","source":"Crossref","is-referenced-by-count":11,"title":["Aggrecanopathies highlight the need for genetic evaluation of ISS children"],"prefix":"10.1093","volume":"183","author":[{"given":"Ola","family":"Nilsson","sequence":"first","affiliation":[{"name":"1Division of Pediatric Endocrinology & Center for Molecular Medicine, Department of Women\u2019s and Children\u2019s Health, Karolinska Institutet and University Hospital, Stockholm, Sweden"},{"name":"2School of Medical Sciences, \u00d6rebro University and University Hospital, \u00d6rebro, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/183\/2\/EJE-20-0420.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/downloadpdf\/journals\/eje\/183\/2\/EJE-20-0420.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:15:03Z","timestamp":1676391303000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/183\/2\/C9\/6653703"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8]]},"references-count":0,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.1530\/eje-20-0420","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8]]}}}