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Article

A unique case of fibrodysplasia ossificans progressiva with an <i>ACVR1</i> mutation, G356D, other than the common mutation (R206H)

17 Jan 2008

Abstract excerpt

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant congenital disease characterized by progressive heterotopic endochondral osteogenesis with great-toe malformations. A 617G > A (R206H) mutation of the activin A type 1 receptor gene (ACVR1) has been found in all previously reported patients with FOP. Thus, this is one of the most specific of all disease-associated mutations. We report here...

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PMID: 18203193
DOI: 10.1002/ajmg.a.32151

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