Article
Association between Birt Hogg Dube syndrome and cancer predisposition.
Anticancer research - 1 Mar 2010
Palmirotta Raffaele, Savonarola Annalisa, Ludovici Giorgia, Donati Pietro, Cavaliere Francesco, DE Marchis Maria Laura, Ferroni Patrizia, Guadagni Fiorella
Abstract excerpt
The Birt Hogg Dubé syndrome (BHD) is a rare autosomal dominant genodermatosis predisposing patients to developing fibrofolliculoma, trichodiscoma and acrochordon. The syndrome is caused by germline mutations in the folliculin (FLCN) gene, encoding the folliculin tumor-suppressor protein. Numerous mutations have been described in the FLCN gene, the most frequent occurring within a C8 tract of exon 11. This...
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