Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspects

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

Eileen M. Shore, Meiqi Xu, George Feldman et al. · Nature Genetics · 2006 · 1.2K citations

Life Sciences, Genetics, Molecular Genetics +11

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

Frederick S. Kaplan, Meiqi Xu, Petra Seemann et al. · Human Mutation · 2008 · 448 citations

Medicine, Genetics, Molecular Genetics +15

Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients

J. M. Connor, DA Evans · Journal of Bone and Joint Surgery - British Volume · 1982 · 364 citations

Medicine, Orthopaedic Surgery, Orthopedic Surgery +8

The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. A study of forty-four patients.

Randolph B. Cohen, Gregory V. Hahn, Jeffrey Tabas et al. · Journal of Bone and Joint Surgery · 1993 · 332 citations

Medicine, Orthopaedic Surgery, Orthopedic Surgery +8

Evidence for Selective Advantage of Pathogenic FGFR2 Mutations in the Male Germ Line

Anne Goriely, Gil McVean, M Rojmyr et al. · Science · 2003 · 307 citations

Life Sciences, Genetics, Molecular Genetics +17