Publication | Open Access

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

Mendelian DisorderMedicineGeneticsNatural SciencesMolecular BiologyReceptor Cause AchondroplasiaFibroblast Growth FactorCellular BiochemistryCysteine ResiduesCell BiologyCell SignalingCellular PhysiologyNovel Fgfr3 Mutations