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Article

Fibrodysplasia ossificans progressiva: three Indian patients with mutation in the ACVR1 gene.

Indian journal of pediatrics - 1 Jun 2014

Shukla Anju, Taywade Onjal, Stephen Joshi, Gupta Divya, Phadke Shubha R

Abstract excerpt

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by ectopic bone formation involving the connective tissues leading to severe skeletal manifestations. The genetic defect in this disorder has not been characterized in Indian patients till date. The authors report three cases of FOP along with the molecular defects identified in them. Exon 4 of the ACVR1 gene was amplified and...

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Activin Receptors, Type I
Adolescent
Child
Child, Preschool
India

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Myositis Ossificans

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Identifiers

PMID: 23918320
DOI: 10.1007/s12098-013-1117-5

Genes

ACVR1

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

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Fibrodysplasia ossificans progressiva: three Indian patients with mutation in the ACVR1 gene.PMID 23918320Read ↗

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