Activating mutations in the fibroblast growth factor receptor 3 (FGFR3) or inactivating
mutations in guanylyl cyclase–B (GC-B), also known as NPR-B or Npr2, cause short-limbed …

Activating mutations in fibroblast growth factor receptor 3 (FGFR3) and inactivating
mutations of guanylyl cyclase-B (GC-B, also called NPRB or NPR2) cause dwarfism. FGF …

Activating mutations in fibroblast growth factor receptor 3 (FGFR3) and inactivating
mutations in the natriuretic peptide receptor 2 (NPR2) guanylyl cyclase both result in …

Achondroplasia (ACH), the most common form of dwarfism, is an inherited autosomal-
dominant chondrodysplasia caused by a gain-of-function mutation in fibroblast-growth-factor …

Current research into the pathogenesis of achondroplasia has expanded our understanding
of the mechanisms of FGFR3-induced disease and has increased the number of …

Two mutations in FGFR3, G380R and G375C are known to cause achondroplasia, the most
common form of human dwarfism. The G380R mutation accounts for 98% of the …

Activating mutations in the FGFR3 gene cause Achondroplasia (ACH) 1, 2 and
Thanatophoric Dysplasia (TD) 3, 4. Both syndromes present with severely shortened limbs …

The most frequent type of rhizomelic dwarfism, achondroplasia (ACH), is caused by
mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Mutations in FGFR3 result …

Activating germline fibroblast growth factor receptor 3 (FGFR3) mutations cause
achondroplasia (ACH), the most common form of human dwarfism and a spectrum of …

Mutations that exaggerate signalling of the receptor tyrosine kinase fibroblast growth factor
receptor 3 (FGFR3) give rise to achondroplasia, the most common form of dwarfism in …