Endocrine Abstracts

Bardet-Biedl syndrome (BBS) is a heterogeneous autosomal recessive disorder characterized by obesity, retinopathy, cognitive abnormalities, and polydactyly and other congenital anomalies. Patients also have an increased incidence of hypertension and diabetes. Mutations in at least 14 genes have been reported to independently cause BBS. In order to better understand the pathophysiology of BBS, we have generated BBS mouse models and have investigated the interaction of the prote...