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

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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Main Authors: 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
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Journal of Medical Case Reports
Subjects:
Bardet–Biedl syndrome
BBS
Beales diagnostic criteria
Case report
Online Access:https://doi.org/10.1186/s13256-025-05455-0
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