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

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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)119-121
Number of pages3
JournalClinical Rheumatology
Volume29
Issue number1
DOIs
Publication statusPublished - Jan 2010

Keywords

  • ACVR1
  • Fibrodysplasia
  • Heterotopic ossification
  • Mutation

ASJC Scopus subject areas

  • Rheumatology

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