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Article

The congenital great toe malformation of fibrodysplasia ossificans progressiva? - A close call.

European journal of medical genetics - 1 Jul 2017

Towler O Will, Shore Eileen M, Xu Meiqi, Bamford Abbey, Anderson Ilse, Pignolo Robert J, Kaplan Frederick S

Abstract excerpt

BACKGROUND: Congenital bilateral hallux valgus with associated absence or fusion of the interphalangeal joint is a classic diagnostic feature of fibrodysplasia ossificans progressiva (FOP), a human genetic disease of extra-skeletal bone formation caused in nearly all cases by a gain-of-function mutation in Activin A Receptor I/Activin-like Kinase 2 (ACVR1/ALK2), which encodes a bone morphogenetic protein (BMP)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28473268
DOI: 10.1016/j.ejmg.2017.04.013

Genes

ACVR1

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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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