Two new papers have been added to the BHD Literature Database. Fontcuberta et al report a case study of a 63-year-old BHD patient with fibrofolliculomas on the eyelids and choroidal melanoma.
Benhammou et al have identified intragenic deletions and one duplication in the FLCN gene in BHD families where FLCN sequence mutations had not been found. Their findings will allow for BHD to be diagnosed in some families who have not been able to confirm a BHD diagnosis by mutation analysis.
For more information, download the latest version of the database here.