New BHD review published

An authoritative BHD review by Schmidt and Lineham (2015) was recently published in Expert Opinion on Orphan Drugs. This detailed yet succinct review covers the clinical manifestations, genetics, diagnostic criteria and clinical management of BHD, as well as summarising the known functions of folliculin and the molecular consequences of its loss. The authors end by commenting on current treatments and on the future development of more targeted therapies based on greater understanding of the disease.


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