. . . . . . . . . . . . "[We report a case of Pendred syndrome in a 27-year-old woman who had a diffuse goiter and progressive sensorineural hearing loss with fluctuation and a missense mutation (His723Arg) in the PDS gene identified in a homozygous state.]. 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 . "2014-10-02T12:39:18+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .