BHD Literature Database

The BHD Literature Database has been updated to include a case study of two Smith-Magenis Syndrome (SMS) patients. One case suffered three recurrent pneumothoraces, an atypical presentation in SMS. Molecular analysis of FLCN identified a previously identified SNP that resulted in a missense mutation in isoform 2 of the Folliculin protein.

To find out more download the latest version of the BHD Literature Database here.

The .pdf version can also be accessed directly from our BHD Article Library here.

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