An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation
2007
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.
Keywords:
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
24
References
29
Citations
NaN
KQI