Article
Fibrodysplasia ossificans progressiva.
Best practice & research. Clinical rheumatology - 1 Mar 2008
Kaplan Frederick S, Le Merrer Martine, Glaser David L, Pignolo Robert J, Goldsby Robert E, Kitterman Joseph A, Groppe Jay, Shore Eileen M
Abstract excerpt
Fibrodysplasia ossificans progressiva (FOP), a rare and disabling genetic condition of congenital skeletal malformations and progressive heterotopic ossification (HO), is the most catastrophic disorder of HO in humans. Episodic disease flare-ups are precipitated by soft tissue injury, and immobility is cumulative. Recently, a recurrent mutation in activin receptor IA/activin-like kinase 2 (ACVR1/ALK2), a bone...
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