Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (Gly to Cys transition at codon 375)
Nishimura
G
G
Fukushima
Y
Y
Ohashi
H
H
Ikegawa
S
S
D000130:Achondroplasia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D003062:Codon / Q000235:genetics*; D004252:DNA Mutational Analysis; D005269:Femur / Q000000981:diagnostic imaging* / Q000473:pathology; D006132:Growth Plate / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011505:Protein-Tyrosine Kinases; D011859:Radiography; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013131:Spine / Q000000981:diagnostic imaging* / Q000473:pathology; D013977:Tibia / Q000000981:diagnostic imaging* / Q000473:pathology
D003062:Codon; D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3