Ciliopathy: Bardet-Biedl Syndrome

Adv Exp Med Biol. 2025:1467:185-188. doi: 10.1007/978-3-031-72230-1_33.

Authors

Ahmet Hondur¹, Stephen Tsang², Alicia R P Aycinena³, Tarun Sharma¹, Vlad Diaconita¹

Affiliations

¹ Department of Ophthalmology, Columbia University, New York, NY, USA.
² Department of Ophthalmology, Columbia University, New York, NY, USA. sht2@cumc.columbia.edu.
³ Kaiser Permanente, San Francisco, CA, USA.

PMID: 40736835
DOI: 10.1007/978-3-031-72230-1_33

Abstract

Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000.

© 2025. The Author(s), under exclusive license to Springer Nature Switzerland AG.

MeSH terms

Animals
Bardet-Biedl Syndrome* / genetics
Bardet-Biedl Syndrome* / metabolism
Bardet-Biedl Syndrome* / pathology
Cilia* / genetics
Cilia* / metabolism
Cilia* / pathology
Humans
Mutation