Germline and somatic mosaicism in achondroplasia.
Henderson
S
S
Sillence
D
D
Loughlin
J
J
Bennetts
B
B
Sykes
B
B
D000130:Achondroplasia / Q000235:genetics*; D000328:Adult; D002648:Child; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods; D005838:Genotype; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009030:Mosaicism / Q000235:genetics*; D009679:Nuclear Family; D010641:Phenotype; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics
D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3