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Article

Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?

Clinical genetics - 1 Jan 2018

Suerink M, Potjer T P, Versluijs A B, Ten Broeke S W, Tops C M, Wimmer K, Nielsen M

Abstract excerpt

Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer predisposition syndrome caused by biallelic germline mutations in one of the mismatch repair genes. The CMMRD phenotype overlaps with that of neurofibromatosis type 1 (NF1), since many patients have multiple café-au-lait macules (CALM) and other NF1 signs, but no germline NF1 mutations. We report of a case of a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28503822
DOI: 10.1111/cge.13053

Genes

PMS2
SPRED1

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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