Assessment of genetic variation(s) in BBS10, BBS6, and BBS12 in a family from Sindh, Pakistan diagnosed with Bardet-Biedl Syndrome
The genetic variations showed confounding effects of BBS10, BBS6 and BBS12 genes which might indicate the epistatic effects of other variants present on different loci.
Authors
- Khalid Sher
- Saima Saleem (ORCID: https://orcid.org/0000-0003-2173-1008)
- Sitwat Zehra (ORCID: https://orcid.org/0000-0001-9164-6998)
- Sehrish Fatima (ORCID: https://orcid.org/0000-0002-6824-2677)
- Maryam Amjad (ORCID: https://orcid.org/0000-0001-8243-1610)
- Suneel Kumar (ORCID: https://orcid.org/0000-0003-1523-0741)
- Faiza Zehra
Institutions
- Jinnah Postgraduate Medical Center (PK)
- University of Karachi (PK)
Publication Details
- Journal
- Journal of the Pakistan Medical Association
- Published
- 2025-11-22
- DOI
- https://doi.org/10.47391/jpma.25-21343
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00