. . . . . . . . . . . . "[We refer to the phenotype caused by the Lys650Met mutation as severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2016-01-25"^^ . "2016-05-13T12:41:50+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .