[A new mutation causes achondrodysplasia. A simple DNA analysis confirms the diagnosis].
Alderborn
A
A
Avdelningen för klinisk genetik, Akademiska sjukhuset, Uppsala.
Anvret
M
M
Gustavson
K H
KH
Hagenäs
L
L
Wadelius
C
C
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
D017468:Receptors, Fibroblast Growth Factor
Nymutation orsakar akondroplasi. Enkel DNA-analys ger säker diagnos.