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Article

Neuroimaging Findings in Children with Constitutional Mismatch Repair Deficiency Syndrome.

AJNR. American journal of neuroradiology - 1 May 2020

Kerpel A, Yalon M, Soudack M, Chiang J, Gajjar A, Nichols K E, Patay Z, Shrot S, Hoffmann C

Abstract excerpt

BACKGROUND AND PURPOSE: Constitutional mismatch repair deficiency is a hereditary childhood cancer predisposition syndrome characterized by brain tumors and colorectal and hematologic malignancies. Our objective was to describe the neuroimaging findings in patients with constitutional mismatch repair deficiency. MATERIALS AND METHODS: This retrospective study included 14 children with genetically confirmed...

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Identifiers

PMID: 32354708
DOI: 10.3174/ajnr.A6512
PMCID: PMC7228156

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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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