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Article

Midline brain hamartomatous lesions in fibrodysplasia ossificans progressiva with ACVR1 mutations.

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Aug 2023

Kresak Jesse Lee, Walsh Meggen, Tuzzolo Anthony, Ordulu Zehra, Gregory Jason

Abstract excerpt

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by extensive heterotopic ossification of soft tissue structures leading to severe limitations in movement. FOP is caused by a germline mutation in the activating receptor type IA (ACVR1) gene. Worrisome is the fact that up to a third of diffuse intrinsic pontine gliomas (DIPG) also harbor the same point mutation in ACVR1....

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Identifiers

PMID: 36642816
DOI: 10.1111/neup.12892

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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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