Article
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop.
Frontiers in endocrinology - 1 Jan 2021
de Ruiter Ruben D, Smilde Bernard J, Pals Gerard, Bravenboer Nathalie, Knaus Petra, Schoenmaker Ton, Botman Esmée, Sánchez-Duffhues Gonzalo, Pacifici Maurizio, Pignolo Robert J, Shore Eileen M, van Egmond Marjolein, Van Oosterwyck Hans, Kaplan Frederick S, Hsiao Edward C, Yu Paul B, Bocciardi Renata, De Cunto Carmen Laura, Longo Ribeiro Delai Patricia, de Vries Teun J, Hilderbrandt Susanne, Jaspers Richard T, Keen Richard, Koolwijk Peter, Morhart Rolf, Netelenbos Jan C, Rustemeyer Thomas, Scott Christiaan, Stockklausner Clemens, Ten Dijke Peter, Triffit James, Ventura Francesc, Ravazzolo Roberto, Micha Dimitra, Eekhoff Elisabeth M W
Abstract excerpt
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare progressive genetic disease effecting one in a million individuals. During their life, patients with FOP progressively develop bone in the soft tissues resulting in increasing immobility and early death. A mutation in the ACVR1 gene was identified as the causative mutation of FOP in 2006. After this, the pathophysiology of FOP has been further...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.