2010
DOI: 10.1186/1471-2407-10-360
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Abstract: Background and Case PresentationA patient with nevoid basal cell carcinoma syndrome (Gorlin syndrome) presented with two unusual clinical features, i.e. adenocarcinoma of the small bowel and extensive mesenchymal proliferation of the lower gastrointestinal tract.ConclusionsWe discuss the possibility that these two features are pathogenetically linked to the formerly undescribed patient's PTCH germ line mutation.

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