Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father.
Sobetzko
D
D
Braga
S
S
Rüdeberg
A
A
Superti-Furga
A
A
D000130:Achondroplasia / Q000235:genetics*; D000225:Adenine; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine / Q000235:genetics*; D002648:Child; D005260:Female; D005998:Glycine / Q000235:genetics*; D006147:Guanine; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D009679:Nuclear Family; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*
D017468:Receptors, Fibroblast Growth Factor; D006147:Guanine; D001120:Arginine; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D000225:Adenine; D005998:Glycine