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Article

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

American journal of medical genetics. Part A - 1 Jan 2014

Nakahara Y, Katagiri T, Ogata N, Haga N

Abstract excerpt

Fibrodysplasia ossificans progressiva (FOP) is a rare, congenital disorder caused by heterozygous mutation of the bone morphogenetic protein type I receptor ACVR1. Various forms of atypical FOP have recently been identified, and a novel mutation, ACVR1 (587T>C), was reported in 2011. We report on the second patient worldwide with ACVR1 (587T>C) mutation. A 22-year-old Japanese male with no family history of...

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Activin Receptors, Type I
Bone and Bones
DNA Mutational Analysis
Exons
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Magnetic Resonance Imaging

Myositis Ossificans

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Identifiers

PMID: 24259422
DOI: 10.1002/ajmg.a.36219

Genes

ACVR1

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

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