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Article

Compound heterozygosity for MSH6 mutations in a pediatric lymphoma patient.

Journal of pediatric hematology/oncology - 1 Feb 2009

Peters Antoinette, Born Hayley, Ettinger Robert, Levonian Peter, Jedele Kerry Baldwin

Abstract excerpt

An 8-year-old male with lymphoblastic lymphoma was noted to have multiple café-au-lait macules and possible Lisch nodules. Work-up revealed the child as compound heterozygous for mutations in the DNA mismatch repair gene, MSH6. This case emphasizes many clinical issues regarding individuals with biallelic mismatch repair mutations, a rare and easily missed hereditary predisposition to childhood cancer. The issues...

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Source

Identifiers

PMID: 19194194
DOI: 10.1097/MPH.0b013e31818b3774

Genes

MSH6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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