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  • Title: Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.
    Author: Ratbi I, Bocciardi R, Regragui A, Ravazzolo R, Sefiani A.
    Journal: Clin Rheumatol; 2010 Jan; 29(1):119-21. PubMed ID: 19795179.
    Abstract:
    Fibrodysplasia ossificans progressiva (FOP, MIM 135100) is a rare autosomal dominant disorder characterized by postnatal progressive heterotopic ossification of the connective tissue and congenital malformation of the big toes. Recently, FOP has been associated with a specific mutation of ACVR1, the gene coding for a bone morphogenetic protein type I receptor. We report the case of a Moroccan patient with FOP carrying a rarely occurring mutation of ACVR1 gene.
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