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Article

Frequent CTNNB1 p.S45 Mutations and Aggressive Clinical Behavior in Neuromuscular Choristoma-Associated Fibromatosis.

Neurosurgery - 15 Mar 2021

Carter Jodi M, Maldonado Andres A, Howe B Matthew, Okuno Scott, Spinner Robert J

Abstract excerpt

BACKGROUND: Neuromuscular choristoma (NMC) is a peripheral nerve malformation frequently associated with a fibromatosis (NMC-DTF) that mimics sporadic desmoid-type fibromatosis (DTF). Sporadic DTF is often managed conservatively but its clinical behavior varies. CTNNB1 mutational subtypes in sporadic DTF have prognostic value. We have previously identified CTNNB1 mutations in NMC, and 3 paired NMC-DTF but the...

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Identifiers

PMID: 33442732
DOI: 10.1093/neuros/nyaa534
PMCID: PMC7955962

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