Screening, diagnostic, and monitoring approaches of Bardet-Biedl Syndrome: A scoping review

Screening, diagnostic, and monitoring approaches of Bardet-Biedl Syndrome: A scoping review

Introduction: Bardet-Biedl Syndrome (BBS) is a rare, autosomal recessive, multisystemic ciliopathy. Providing care for BBS presents challenges due to limited data. This scoping review aimed to characterize evidence for screening, diagnosing, and monitoring BBS. Methods: We searched ten databases for...

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Bibliographic Details
Main Authors: Letícia Nunes Campos, Ivo Valentin Rudzinski, Gabriela Oriana Pintos, Santino Curto, Santiago Miguel Maximowicz, Ayla Gerk, Israel Dávila Rivera, Federico Fernandez Zelcer, Carlos Stegmann, Carina Francisca Argüelles, Jorgelina Stegmann
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Rare
Subjects:
Diagnostic Techniques and Procedures
Case Management
Comprehensive Health Care
Genetic Testing
Rare Diseases
Online Access:http://www.sciencedirect.com/science/article/pii/S2950008725000365
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