Bardet-Biedl-Syndrome patient day
The Bardet-Biedl syndrome is a ciliopathy that affects various tissues, with its main symptoms encompassing retinal cone-rod dystrophy, polydactyly, kidney dysfunction, and obesity. BBS arises from mutations in 26 different BBS genes. Interestingly, despite being obese, some BBS patients do not display metabolic complications. The patient day will foster the interaction between the patients, their […]
