Article
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.
Human mutation - 1 Mar 2009
Kaplan Frederick S, Xu Meiqi, Seemann Petra, Connor J Michael, Glaser David L, Carroll Liam, Delai Patricia, Fastnacht-Urban Elisabeth, Forman Stephen J, Gillessen-Kaesbach Gabriele, Hoover-Fong Julie, Köster Bernhard, Pauli Richard M, Reardon William, Zaidi Syed-Adeel, Zasloff Michael, Morhart Rolf, Mundlos Stefan, Groppe Jay, Shore Eileen M
Abstract excerpt
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 features of FOP (great toe malformations and progressive heterotopic ossification) have previously been found to carry...
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