An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation.
Fam Cancer
; 6(3): 317-21, 2007.
Article
em En
| MEDLINE
| ID: mdl-17323113
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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Coleções:
01-internacional
Base de dados:
MEDLINE
Limite:
Humans
/
Male
/
Middle aged
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article