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Updated: Jul 16, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation
Angela Arnold1, Stewart Payne, Samantha Fisher
1Opaldia Limited, 27 Fitzroy Square, London W1T 6ES, UK. angela.arnold@opaldia.com
Abstract:
Mutations reported to cause Muir-Torre syndrome (MTS) have previously been reported in the mismatch repair genes MLH1 and MSH2 and more recently, in MYH [1]. We report siblings, one of whom has a clinical diagnosis of MTS, who have a pathogenic MSH6 gene mutation. This finding demonstrates that MSH6 gene analysis should be considered in MTS families where no MSH2 or MLH1 gene mutations have been found.
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