Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
Mortier
G
G
Nuytinck
L
L
Craen
M
M
Renard
J P
JP
Leroy
J G
JG
de Paepe
A
A
D000130:Achondroplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D019943:Amino Acid Substitution; D001216:Asparagine / Q000235:genetics; D002648:Child; D005260:Female; D006801:Humans; D009154:Mutation; D011505:Protein-Tyrosine Kinases; D011859:Radiography; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D012694:Serine / Q000235:genetics
D017468:Receptors, Fibroblast Growth Factor; D012694:Serine; D001216:Asparagine; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3