Article

A Novel Gain-of-Function Mutation in BMPR2 in a Patient with Variant Fibrodysplasia Ossificans Progressiva

2026-01-16

Abstract excerpt

<title>Abstract</title> <p> Heterotopic ossification (HO), a pathological process in which bone forms in soft tissues is rare and debilitating without effective treatment. Gain-of-function mutations in <italic>ACVR1</italic> cause fibrodysplasia ossificans progressiva (FOP). Here we report a novel, ultrarare gain of function mutation in <italic>BMPR2</italic> (c.1126G > A, p.E376K) that causes a systemic HO...

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Literature Corpus work: 32188334-b783-5101-8f93-04521c25d9fe
DOI: 10.21203/rs.3.rs-8453923/v1

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