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Article

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.

European journal of human genetics : EJHG - 1 Mar 2009

Bocciardi Renata, Bordo Domenico, Di Duca Marco, Di Rocco Maja, Ravazzolo Roberto

Abstract excerpt

Fibrodysplasia ossificans progressiva (FOP, MIM 135100) is a rare genetic disorder characterized by congenital great toe malformations and progressive heterotopic ossification transforming skeletal muscles and connective tissues to bone following a well-defined anatomic pattern of progression. Recently, FOP has been associated with a specific mutation of ACVR1, the gene coding for a bone morphogenetic protein...

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Activin Receptors, Type I
Amino Acid Sequence
Child
Child, Preschool
DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Models, Molecular

Myositis Ossificans

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Open in PubMed Open full text

Identifiers

PMID: 18830232
DOI: 10.1038/ejhg.2008.178
PMCID: PMC2986177

Genes

ACVR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.PMID 18830232Read ↗

A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene.Semantic proximity Read ↗

Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype CorrelationSemantic proximity Read ↗

Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients.Semantic proximity Read ↗

ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva.Semantic proximity Read ↗

ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva.Semantic proximity Read ↗

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.Semantic proximity Read ↗

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.Semantic proximity Read ↗

A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date.Semantic proximity Read ↗

Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients.Semantic proximity Read ↗

ACVR1 (587T>C) mutation in a variant form of fibrodysplasia ossificans progressiva: second report.Semantic proximity Read ↗

Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.Semantic proximity Read ↗

Mutational screening of <i>ACVR1</i> gene in Brazilian fibrodysplasia ossificans progressiva patientsSemantic proximity Read ↗

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