{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:06:06Z","timestamp":1792152366729,"version":"4.4.0"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,12,19]],"date-time":"2013-12-19T00:00:00Z","timestamp":1387411200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Dysspondyloenchondromatosis is a rare form of generalized enchondromatosis associated with spinal involvement. This skeletal dysplasia is characterized by multiple enchondromas present in vertebrae as well as in metaphyseal and diaphyseal parts of the long tubular bones, post\u2010natal short stature, and early development of kyphoscoliosis. A novel heterozygous missense mutation in <jats:italic>COL2A1<\/jats:italic> was recently identified in a patient with dysspondyloenchondromatosis. This suggests that dysspondyloenchondromatosis might expand the already broad spectrum of type II collagenopathies. Here, we report on a young girl with features of dysspondyloenchondromatosis, specifically short stature, thoracoscoliosis, and generalized enchondromas lesions. Sanger sequencing failed to detect a mutation in <jats:italic>COL2A1<\/jats:italic>. We therefore suggest that dysspondyloenchondromatosis is a genetically heterogeneous condition. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36331","type":"journal-article","created":{"date-parts":[[2013,12,19]],"date-time":"2013-12-19T20:50:37Z","timestamp":1387486237000},"page":"769-773","source":"Crossref","is-referenced-by-count":6,"title":["Dysspondyloenchondromatosis without <i>COL2A1<\/i> mutation: Possible genetic heterogeneity"],"prefix":"10.1002","volume":"164","author":[{"given":"Fr\u00e9d\u00e9ric","family":"Tran Mau\u2010Them","sequence":"first","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale Centre de R\u00e9f\u00e9rence Maladies Rares Anomalies du D\u00e9veloppement et Syndromes Malformatifs Sud\u2010Languedoc Roussillon, CHRU Montpellier, Facult\u00e9 de M\u00e9decine Universit\u00e9 Montpellier 1 Montpellier 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