Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al.
Friez
Michael J
MJ
Wilson
Joseph A P
JA
D000130:Achondroplasia / Q000175:diagnosis / Q000235:genetics*; D005091:Exons; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*
C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3