Literature DB >> 21567927

Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis.

Christopher P Barnett, Manish Dugar, Eric A Haan.   

Abstract

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Year:  2011        PMID： 21567927     DOI： 10.1002/ajmg.a.34003

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

1.  Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

Authors:  Nathalie Bravenboer; Dimitra Micha; James T Triffit; Alex N Bullock; Roberto Ravazollo; Renata Bocciardi; Maja di Rocco; J Coen Netelenbos; Peter Ten Dijke; Gonzalo Sánchez-Duffhues; Fred S Kaplan; Eileen M Shore; Robert J Pignolo; Petra Seemann; Francesc Ventura; Genevieve Beaujat; Elizabeth M W Eekhoff; Gerard Pals
Journal:  Eur J Hum Genet       Date:  2015-01-21       Impact factor: 4.246

Review 2.  Common mutations in ALK2/ACVR1, a multi-faceted receptor, have roles in distinct pediatric musculoskeletal and neural orphan disorders.

Authors:  Maurizio Pacifici; Eileen M Shore
Journal:  Cytokine Growth Factor Rev       Date:  2015-12-28       Impact factor: 7.638

3.  Phenotypic differences of patients with fibrodysplasia ossificans progressive due to p.Arg258Ser variants of ACVR1.

Authors:  Yasuo Nakahara; Ryuyo Suzuki; Takenobu Katagiri; Junya Toguchida; Nobuhiko Haga
Journal:  Hum Genome Var       Date:  2015-12-10

Review 4.  ACVR1 Function in Health and Disease.

Authors:  José Antonio Valer; Cristina Sánchez-de-Diego; Carolina Pimenta-Lopes; Jose Luis Rosa; Francesc Ventura
Journal:  Cells       Date:  2019-10-31       Impact factor: 6.600
  4 in total

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