New BHD clinical and genetic review

A new review from Schmidt and Linehan (2015), of the NIH in Bethesda, discusses both the clinical and genetic aspects of BHD. The authors describe the well-characterised clinical manifestations of BHD alongside diagnostic criteria and patient management recommendations. In addition they summarise current understanding of the genetics underlying BHD, known functions of FLCN and the pathways believed to be involved in tumourigenesis. The review finishes with a look at potential therapeutic options based on past and ongoing research.

Leave a Reply