Searchable abstracts of presentations at key conferences on calcified tissues

ba0004oc17 | (1) | ICCBH2015

Inhibition of TGFβ signalling delays ossification in patients with fibrodysplasia ossificans progressiva

Micha Dimitra , Voermans Elise , Huib van Essen , Drukker Jesse , Netelenbos Coen , Eekhoff Marelise , Bravenboer Nathalie

Fibrodysplasia ossificans progressiva (FOP) is a rare congenital disorder characterized by progressive heterotopic ossification. FOP patients only present great toe malformations at birth. However, as they grow older they develop soft tissue lumps as a result of flare-ups causing the irreversible replacement of skeletal muscle tissue with bone tissue leading to cumulative physical immobility. Classical FOP patients possess a mutation (c.617G>A; R206H) in the activin recept...