title: [A new mutation causes achondrodysplasia. A simple DNA analysis confirms the diagnosis].
authors.affiliation: Avdelningen för klinisk genetik, Akademiska sjukhuset, Uppsala.
authors.forename: A
authors.initials: A
authors.lastname: Alderborn
authors.forename: M
authors.initials: M
authors.lastname: Anvret
authors.forename: K H
authors.initials: KH
authors.lastname: Gustavson
authors.forename: L
authors.initials: L
authors.lastname: Hagenäs
authors.forename: C
authors.initials: C
authors.lastname: Wadelius
mesh_terms: D000130:Achondroplasia / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics
chemical_list: D017468:Receptors, Fibroblast Growth Factor
vernacular_title: Nymutation orsakar akondroplasi. Enkel DNA-analys ger säker diagnos.