[Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia].
Rousseau
F
F
INSERM U393, Hôpital des Enfants Malades, Paris.
Bonaventure
J
J
Le Merrer
M
M
Maroteaux
P
P
Munnich
A
A
D000130:Achondroplasia / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics*; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013796:Thanatophoric Dysplasia / Q000235:genetics*
D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3
Des mutations du gène FGFR-3 sont responsables de 3 types de nanismes de sévérité variable: l'achondroplasie, le nanisme thanatophore et l'hypochondroplasie.