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Article

Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel biallelic MSH6 mutation.

Haematologica - 1 May 2010

Ripperger Tim, Beger Carmela, Rahner Nils, Sykora Karl W, Bockmeyer Clemens L, Lehmann Ulrich, Kreipe Hans H, Schlegelberger Brigitte

Abstract excerpt

Biallelic mutations of mismatch repair genes cause constitutional mismatch repair deficiency associated with an increased risk for childhood leukemia/lymphoma. We report on a case with constitutional mismatch repair deficiency caused by a novel MSH6 mutation leading to a T-cell lymphoma and colonic adenocarcinoma at six and 13 years of age, respectively. A review of the literature on hematologic malignancies in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20015892
DOI: 10.3324/haematol.2009.015503
PMCID: PMC2864393

Genes

MSH6

Provenance

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Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel biallelic MSH6 mutation.PMID 20015892Read ↗

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