. . . . . . . . . . . . "[a boy who had congenital contractures with pterygia at birth and severe OI-like osteopenia and multiple fractures and he was shown to be homozygous for a novel mutation leading to an Arg598His substitution in PLOD2]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2015-08-25T14:39:36+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .