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Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.

Ilham Ratbi, Renata Borcciadi, Asmaa Regragui, Roberto Ravazzolo, and Abdelaziz Sefiani

Clin Rheumatol 29(1):119-21 (2010) PMID 19795179

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.

DOI: 10.1007/s10067-009-1283-z
Version: za2963e q8za1 q8zbd q8zc4 q8zd1 q8ze9 q8zff q8zg5
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