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Article

Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.

Clinical genetics - 1 Apr 2017

Wimmer K, Rosenbaum T, Messiaen L

Abstract excerpt

Constitutional mismatch repair (MMR) deficiency (CMMRD) is a rare childhood cancer susceptibility syndrome resulting from biallelic germline loss-of-function mutations in one of the MMR genes. Individuals with CMMRD have high risk to develop a broad spectrum of malignancies and frequently display features reminiscent of neurofibromatosis type 1 (NF1). Evaluation of the clinical findings of genetically proven...

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Identifiers

PMID: 27779754
DOI: 10.1111/cge.12904

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