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https://hdl.handle.net/2445/183270| Title: | Fibrodysplasia Ossificans Progressiva: what have we achieved and where are we now? follow-up to the 2015 Lorentz Workshop |
| Author: | de Ruiter, Ruben D. Smilde, Bernard J. Pals, Gerard Bravenboer, Nathalie Knaus, Petra Schoenmaker, Ton Botman, Esmée Sanchez 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 Ribeiro Delai, Patricia Longo Vries, Teun J de 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 Pujol, Francesc Ravazzolo, Roberto Micha, Dimitra Eekhoff, Elisabeth M. W. |
| Keywords: | Miositis Ossificació Músculs Inflamació Myositis Ossification Muscles Inflammation |
| Issue Date: | 10-Nov-2021 |
| Publisher: | Frontiers Media |
| Abstract: | 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 elucidated through the efforts of research groups worldwide. In 2015, a workshop was held to gather these groups and discuss the new challenges in FOP research. Here we present an overview and update on these topics. |
| Note: | Reproducció del document publicat a: https://doi.org/10.3389/fendo.2021.732728 |
| It is part of: | Frontiers In Endocrinology, 2021, vol. 12 |
| URI: | https://hdl.handle.net/2445/183270 |
| Related resource: | https://doi.org/10.3389/fendo.2021.732728 |
| ISSN: | 1664-2392 |
| Appears in Collections: | Articles publicats en revistes (Ciències Fisiològiques) |
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|---|---|---|---|---|
| 719267.pdf | 1.02 MB | Adobe PDF | View/Open |
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