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Article

A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia.

European journal of medical genetics - 1 Jun 2016

Rafati Maryam, Mohamadhashem Faezeh, Hoseini Azadeh, Hoseininasab Fatemeh, Ghaffari Saeed Reza

Abstract excerpt

"Disorganized Development of Skeletal Component" (DDSC) is a group of genetic skeletal dysplasia, caused by mutations in 9 genes including ACVR1. The most known ACVR1-related disorder is fibrodysplasia ossificans progressiva (FOP). FOP variants are frequently encountered with diagnostic challenges due to overlapping clinical manifestations and variable severity. Application of high throughput sequencing methods...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27182040
DOI: 10.1016/j.ejmg.2016.05.007

Genes

ACVR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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