. . . . . . . "[Dominant MMP13 mutations have been associated with metaphyseal anadysplasia (OMIM 602111), while a single child homozygous for a MMP13 mutation had been previously diagnosed as 'recessive metaphyseal anadysplasia,' that we conclude is the same nosologic entity as MDST.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:14:40+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .