Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
Thauvin-Robinet
Christel
C
Faivre
Laurence
L
Lewin
Patricia
P
De Monléon
Jean-Vital
JV
François
Catherine
C
Huet
Frédéric
F
Couailler
Jean-François
JF
Campos-Xavier
Ana Bélinda
AB
Bonaventure
Jacky
J
Le Merrer
Martine
M
D019943:Amino Acid Substitution; D001842:Bone and Bones / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D010384:Pelvic Bones / Q000000981:diagnostic imaging / Q000473:pathology; D011505:Protein-Tyrosine Kinases; D011859:Radiography; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics* / Q000378:metabolism; D013131:Spine / Q000000981:diagnostic imaging / Q000473:pathology
D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3