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Article

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.

American journal of human genetics - 1 May 2004

De Vos Michel, Hayward Bruce E, Picton Susan, Sheridan Eamonn, Bonthron David T

Abstract excerpt

We investigated a family with an autosomal recessive syndrome of cafe-au-lait patches and childhood malignancy, notably supratentorial primitive neuroectodermal tumor. There was no cancer predisposition in heterozygotes; nor was there bowel cancer in any individual. However, autozygosity mapping...

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Topics

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Share to Adenosine Triphosphatases
Share to Base Pair Mismatch
Share to DNA, Neoplasm

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Repair Enzymes

Share to Genes, Recessive

Share to Mismatch Repair Endonuclease PMS2

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Source

Open in PubMed Open full text

Identifiers

PMID: 15077197
DOI: 10.1086/420796
PMCID: PMC1181988

Genes

PMS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15077197-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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