Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva.

Gene - 25 Feb 2013

Eresen Yazıcıoğlu Ciğdem, Karatosun Vasfi, Kızıldağ Sefa, Ozsoylu Dua, Kavukçu Salih

Abstract excerpt

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized with congenital malformations of the great toes and progressive heterotopic ossifications in the skeletal muscles and soft tissue. FOP has been associated with a specific point mutation on the ACVR1 (Activin A receptor type I) gene. Four sporadic cases clinically diagnosed as FOP have been included in this study for mutational...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Activin Receptors, Type I
Share to Adolescent
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ecdysterone

Share to Genetic Association Studies

Share to Mutation, Missense

Share to Myositis Ossificans

Share to Young Adult

Source

Identifiers

PMID: 23260810
DOI: 10.1016/j.gene.2012.12.005

Genes

ACVR1

Variants

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva.PMID 23260810Read ↗

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

A recurrent mutation c.617G>A in the ACVR1 gene causes fibrodysplasia ossificans progressiva in two Chinese patients.Semantic proximity Read ↗

Fibrodysplasia ossificans progressiva: three Indian patients with mutation in the ACVR1 gene.Semantic proximity Read ↗

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

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

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

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

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

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

A unique case of fibrodysplasia ossificans progressiva with an <i>ACVR1</i> mutation, G356D, other than the common mutation (R206H)Semantic proximity Read ↗

The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressivaSemantic proximity Read ↗

Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.