The BHD Literature Database has been updated with a new study by Sattler et al. The authors discuss the case report of a 48-year old male with late onset of fibrofolliculomas, in the fifth decade of life, and identified to carry mutation p.W260X. This mutation has been previously described in a Swiss family that manifested only the lung symptoms of BHD.
To find out more, download the latest version of the database here.
Sattler et al. is freely available to download in the BHD Article Library: Clinical section.