Article
A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene.
Molecular genetics & genomic medicine - 1 Oct 2021
Cappato Serena, Traberg Rasa, Gintautiene Jolita, Zara Federico, Bocciardi Renata
Abstract excerpt
BACKGROUND: Fibrodysplasia Ossificans Progressiva (FOP) is a rare autosomal dominant disease characterized by congenital malformation of the great toes and progressive heterotopic ossification of soft tissues leading to cumulative disability. The genetic cause of FOP are mutations in the ACVR1 gene that encodes a type I receptor of Bone Morphogenetic Proteins. The most recurrent mutation in FOP patients is R206H...
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