Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3.
Van Esch
H
H
Fryns
J E
JE
D000052:Acanthosis Nigricans / Q000150:complications* / Q000235:genetics*; D000130:Achondroplasia / Q000150:complications* / Q000235:genetics*; D001120:Arginine / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005998:Glycine / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*
D017468:Receptors, Fibroblast Growth Factor; D001120:Arginine; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D005998:Glycine