Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes-Reference-Cited by-同舟云学术

Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

Published:2019-05-03 Issue:1 Volume:14 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Pignolo Robert J.,Baujat Geneviève,Brown Matthew A.,De Cunto Carmen,Di Rocco Maja,Hsiao Edward C.,Keen Richard,Al Mukaddam Mona,Sang Kim-Hanh Le Quan,Wilson Amy,White Barbara,Grogan Donna R.,Kaplan Frederick S.

Funder

Clementia Pharmaceuticals Inc

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-019-1068-7.pdf

Reference21 articles.

1. Shore EM, Xu M, Feldman GJ, Fenstermacher GJ, Cho T-J, Choi IH, et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet. 2006;38(5):525–7.

2. Kaplan FS, Pignolo RJ, Shore EM. The FOP metamorphogene encodes a novel type I receptor that dysregulates BMP signaling. Cytokine Growth Factor Rev. 2009;20(5–6):399–407.

3. Lilijesthrom M, Bogard B. The global known FOP population. In: FOP Drug Development Forum. Boston, MA; 2016.

4. Baujat G, Choquet R, Bouée S, Jeanbat V, Ruel A, Michot C, et al. Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases. Orphanet J Rare Dis. 2017;12(1):123.

5. Connor JM, Evans DA. Genetic aspects of fibrodysplasia ossificans progressiva. J Med Genet. 1982;19(1):35–9.

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