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Article

Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6.

European journal of human genetics : EJHG - 1 Mar 2018

Taeubner Julia, Wimmer Katharina, Muleris Martine, Lascols Olivier, Colas Chrystelle, Fauth Christine, Brozou Triantafyllia, Felsberg Joerg, Riemer Jasmin, Gombert Michael, Ginzel Sebastian, Hoell Jessica I, Borkhardt Arndt, Kuhlen Michaela

Abstract excerpt

Constitutional mismatch repair deficiency (CMMRD) is an autosomal recessively inherited childhood cancer susceptibility syndrome caused by biallelic germline mutations in one of the mismatch repair (MMR) genes. The spectrum of CMMRD-associated tumours is very broad and many CMMRD patients additionally display signposting non-neoplastic features, most frequently café-au-lait macules and other pigmentation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29302048
DOI: 10.1038/s41431-017-0071-5
PMCID: PMC5839041

Genes

MSH2
MSH6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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