. . . . . . . . . . . . "[Follow-up and re-evaluation of four patients originally described as examples of severe infantile `micromelic chondrodysplasia` resembling Kniest disease, `kyphomelic dysplasia,` and `Burton skeletal dysplasia` revealed the diagnosis of Schwartz-Jampel syndrome (SJS, myotonic chondrodysplasia) in all of them.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2014-02-25"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2014-10-02T12:35:26+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .