Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder of extraskeletal endochondral bone formation. Heterozygous missense gain-of-function mutations in the activin receptor A type I (ACVR1) gene are present in all individuals with sporadic or familial FOP. ACVR1R206H mutations confer increased sensitivity of this bone morphogenetic protein (BMP) family receptor to activation by BMP ligands and […]
