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Bardet‐Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction

1 Feb 2024

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a rare, monogenic, multisystem disorder characterized by retinal dystrophy, renal abnormalities, polydactyly, learning disabilities, as well as metabolic dysfunction, including obesity and an increased risk of type 2 diabetes. It is a primary ciliopathy, and causative mutations in more than 25 different genes have been described. Multiple cellular mechanisms contribute to the...

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PMID: 38302651
DOI: 10.1111/dom.15480

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