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

22 Citations (Scopus)

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

Fingerprint

Myositis Ossificans
Type I Bone Morphogenetic Protein Receptors
Hallux
Heterotopic Ossification
Mutation
Connective Tissue
Genes

Keywords

  • ACVR1
  • Fibrodysplasia
  • Heterotopic ossification
  • Mutation

ASJC Scopus subject areas

  • Rheumatology

Cite this

Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva. / Ratbi, Ilham; Borcciadi, Renata; Regragui, Asmaa; Ravazzolo, Roberto; Sefiani, Abdelaziz.

In: Clinical Rheumatology, Vol. 29, No. 1, 01.2010, p. 119-121.

Research output: Contribution to journalArticle

Ratbi, Ilham ; Borcciadi, Renata ; Regragui, Asmaa ; Ravazzolo, Roberto ; Sefiani, Abdelaziz. / Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva. In: Clinical Rheumatology. 2010 ; Vol. 29, No. 1. pp. 119-121.
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