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

S. Kaplan, Frederick; Xu, Meiqi; Seemann, Petra; M. Connor, J.; L. Glaser, David; Carroll, Liam; Delai, Patricia; Fastnacht-Urban, Elisabeth; J. Forman, Stephen; Gillessen‐Kaesbach, Gabriele; Hoover‐Fong, Julie; Köster, Bernhard; M. Pauli, Richard; Reardon, William; Zaidi, Syed-Adeel; Zasloff, Michael; Morhart, Rolf; Mundlos, Stefan; C. Groppe, Jay; M. Shore, Eileen

doi:10.1002/humu.20868

Public

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

Published in Human Mutation • Dec 9, 2008

Authors:

Frederick S. Kaplan

Meiqi Xu

Petra Seemann

Abstract

Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant human disorder of bone formation that causes developmental skeletal defects and extensive debilitating bone formation within soft connective tissues (heterotopic ossification) during childhood. All patients with classic clinical fe...

Subject

Fibrodysplasia ossificans progressiva

Heterotopic ossification

Biology

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