ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome 

Authors: Marianne Geilswijk, Maurizio Genuardi, Emma Woodward, Katie Nightingale, Jazzmin Huber, BHD syndrome Guideline Group, Eamonn Maher, Nataliya Di Donato, Joan Brunet

Full guideline document

Journal Publication¹

Pocket guide²

Plain language summary³

Download the complete guidelines here.

Published online on 31 July 2024 in the European Journal of Human Genetics: https://doi.org/10.1038/s41431-024-01671-2

The pocket guide is available in English:  

The plain language summary is available in English: 

¹ The journal publication is a concise version of the full guideline document, published in a peer-reviewed journal.

² The pocket guide is the guideline summary presented on a pocket card.

³ The plain language summary provides a clear summary of the guideline using non-technical language, making it accessible to a wider network of readers including patients.