FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0239399
Disease: Short extremities
Short extremities
0.020 GeneticVariation phenotype BEFREE In this report, we describe a novel FGFR3 insertion mutation in a fetus with shortened limbs, curved femurs, and a narrow thorax. 27028100 2016
CUI: C0239399
Disease: Short extremities
Short extremities
0.020 GeneticVariation phenotype BEFREE Given the homogeneity of mutations within the fibroblast growth factor receptor 3 (FGFR3) gene in the vast majority of patients with Ach, FGFR3 mutational analysis can be offered in every instance where a short-limb disorder is ultrasonographically detected in the latter stages of pregnancy. 8809893 1996