Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report

Abstract Background Bardet–Biedl syndrome is a rare autosomal recessive disease occurring due to a ciliopathic genetic defect. It is caused by mutations in genes encoding proteins vital for the BBSome complex. This complex is essential for ciliary function and cellular signaling. It has multisystem...

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Detalhes bibliográficos

Principais autores:	Adithya Andanappa, Sai Santhosha Mrudula Alla, Aparna Malireddi, Prajwal Udedh, Hanisha Reddy Kukunoor, Deekshitha Alla, Uday Kumar Repalle, Bhanu Prasad Kosuru, Soujanya Tirupati, Ruth Getaneh Bayeh
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2025-08-01
Colecção:	Journal of Medical Case Reports
Assuntos:	Bardet–Biedl syndrome BBS Beales diagnostic criteria Case report
Acesso em linha:	https://doi.org/10.1186/s13256-025-05455-0
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