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Article

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.

BMC medical genetics - 7 May 2015

Thiffault Isabelle, Saunders Carol, Jenkins Janda, Raje Nikita, Canty Kristi, Sharma Mukta, Grote Lauren, Welsh Holly I, Farrow Emily, Twist Greyson, Miller Neil, Zwick David, Zellmer Lee, Kingsmore Stephen F, Safina Nicole P

Abstract excerpt

BACKGROUND: Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage, often leading to immunodeficiency, growth retardation and increased risk of malignancy. CASE PRESENTATION: We performed exome sequencing on a girl with a suspecte...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25948378
DOI: 10.1186/s12881-015-0177-y
PMCID: PMC4630961

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25948378-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.PMID 25948378Read ↗

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