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Article

Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case report.

BMC medical genetics - 27 Feb 2018

Tian Shengjie, Zhu Jianhua, Lu Yaogang

Abstract excerpt

BACKGROUND: Fibrodysplasia ossificans progressiva (FOP), an ultra-rare and disabling genetic disorder of skeletal malformations and progressive heterotopic ossification, is caused by heterozygous activating mutations in activin A receptor, type I/activin-like kinase 2 (ACVR1/ALK2). The rarity of the disease makes it common to make a misdiagnosis and cause mismanagement. CASE PRESENTATION: We reported a case of a...

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Identifiers

PMID: 29482508
DOI: 10.1186/s12881-018-0543-7
PMCID: PMC5828422

Genes

ACVR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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