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DOI 10.3389/fendo.2021.732728

Медицинская библиотека · Frontiers in endocrinology · 2021

Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop.

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

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Аннотация

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.

Для цитирования: 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. Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop.. Frontiers in endocrinology. 2021. DOI: 10.3389/fendo.2021.732728.

Предметные рубрики MeSH

Congresses as TopicEndocrinologyExpert TestimonyHistory, 21st CenturyHumansMutationMyositis OssificansOssification, Heterotopic
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