Clinical and Radiological Heterogeneity for the Rare FGFR3 Variant, P.ser344cys, Description of a Third Patient

The fibroblast growth factor receptor 3 (FGFR3) is a member of the fibroblast growth factor receptor family and consists of an extracellular domain with three immunoglobulin-like regions, a transmembrane domain and an intracellular tyrosine kinase, which is activated by different fibroblast growth factors that then transmit intracellular signals through the STAT and MAPK pathways (