In brief: Achondroplasia.
Stratbucker
William B
WB
Helen DeVos Children's Hospital, Michigan State University,Grand Rapids, Mich, USA.
D000130:Achondroplasia / Q000453:epidemiology* / Q000235:genetics* / Q000401:mortality; D019943:Amino Acid Substitution; D001120:Arginine; D005260:Female; D005799:Genes, Dominant; D005998:Glycine; D006801:Humans; D015994:Incidence; D007223:Infant; D008017:Life Expectancy; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*
D001120:Arginine; C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3; D005998:Glycine