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Article

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

Human genetics - 1 Sept 2008

Wimmer Katharina, Etzler Julia

Abstract excerpt

Heterozygous mutations in one of the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 cause the dominant adult cancer syndrome termed Lynch syndrome or hereditary non-polyposis colorectal cancer. During the past 10 years, some 35 reports have delineated the phenotype of patients with biallel...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18709565
DOI: 10.1007/s00439-008-0542-4

Genes

MLH1
MSH2
MSH6
PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18709565-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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