{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T06:07:01Z","timestamp":1788329221224,"version":"build-2803163510"},"reference-count":9,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2019]]},"abstract":"<jats:p>Schmid-type metaphyseal chondrodysplasia (MIM 156500) is an uncommon autosomal dominant skeletal dysplasia caused by heterozygous mutations in the &lt;i&gt;COL10A1&lt;\/i&gt; gene (MIM 120110) encoding the \u03b11(X) chains of type X collagen. We report an 8-year-old girl with waddling gait, short stature, mild dorsal scoliosis, coxa vara, short lower limbs, bowing of the femurs, genu varum, and metaphyseal fraying and splaying, who is a carrier of a novel heterozygous 2-bp (c.1894_1895dupTA; p.Leu633Thrfs*45) duplication in exon 3 of the &lt;i&gt;COL10A1 &lt;\/i&gt;gene.<\/jats:p>","DOI":"10.1159\/000496553","type":"journal-article","created":{"date-parts":[[2019,2,8]],"date-time":"2019-02-08T22:02:32Z","timestamp":1549663352000},"page":"167-170","source":"Crossref","is-referenced-by-count":5,"title":["A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1"],"prefix":"10.1159","volume":"10","author":[{"given":"Francisco","family":"Cammarata-Scalisi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uta","family":"Matysiak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanja","family":"Velten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Callea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianora","family":"Araque","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin E.","family":"Willoughby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Galeotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Avenda\u00f1o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2019,2,9]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-018-2791-0"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1297\/cpe.25.107"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30855"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.12.011"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1094\/PDIS-94-9-1172A"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.3892\/ijmm.2017.2954"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s00776-011-0021-y"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2011.03.026"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/496553","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/496553","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:10:51Z","timestamp":1745424651000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000496553"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019]]},"references-count":9,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2019,5,2]]},"published-print":{"date-parts":[[2019,5,7]]}},"URL":"https:\/\/doi.org\/10.1159\/000496553","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019]]}}}