Bardet-Biedl Syndrome: An Overview
Bardet-Beidl syndrome (BBS) is an autosomal recessive ciliopathy (disorder of cilia) characterised by early development of retinal rod-cone dystrophy as well as renal abnormalities, obesity, polydactyly, obesity and learning difficulties.
Authors
- Euan MacInnes
Publication Details
- Journal
- Journal of the Foundations of Ophthalmology
- Published
- 2025-11-25
- DOI
- https://doi.org/10.48089/jfo7688342
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00