Bardet–Biedl syndrome in two sibling pairs: a case series
This series highlights the significant intrafamilial variability of Bardet-Biedl syndrome and underscores the value of systematic clinical frameworks for early diagnosis and multidisciplinary management in settings where genetic confirmation is not available.
Authors
- Muhammad Rashid Asghar
- Muhammad Shahzil (ORCID: https://orcid.org/0000-0002-4010-7545)
- Zubair M. Ahmed (ORCID: https://orcid.org/0000-0003-2914-4502)
- Khuram Bashir
- Aimon Riaz
- Abdul Aziz
- Anfal Arshad
- Munzir Latif
- Nayyar Saleem
Institutions
- Jinnah Postgraduate Medical Center (PK)
- Indus Hospital (PK)
Publication Details
- Journal
- Journal of Medical Case Reports
- Published
- 2026-03-14
- DOI
- https://doi.org/10.1186/s13256-026-05917-z
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00