Article
A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date.
Bone - 1 Mar 2011
Gregson Celia L, Hollingworth Peter, Williams Martin, Petrie Kirsten A, Bullock Alex N, Brown Matthew A, Tobias Jon H, Triffitt James T
Abstract excerpt
Fibrodysplasia Ossificans Progressiva (FOP) is a rare, autosomal dominant condition, classically characterised by heterotopic ossification beginning in childhood and congenital great toe malformations; occurring in response to a c.617 G > A ACVR1 mutation in the functionally important glycine/serine-rich domain of exon 6. Here we describe a novel c.587 T > C mutation in the glycine/serine-rich domain of ACVR1,...
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