Phenotypic and Genetic Heterogeneity of a Pakistani Cohort of 15 Consanguineous Families Segregating Variants in Leber Congenital Amaurosis-Associated Genes
Comprehensive molecular diagnosis of 15 consanguineous Pakistani families led to the identification of a total of 5 novel variants contributing to genetic heterogeneity of LCA-associated genes and helped to provide genetic counseling to the affected families.
Authors
- Hafiz Muhammad Jafar Hussain (ORCID: https://orcid.org/0000-0001-5269-8971)
- Sana Bibi (ORCID: https://orcid.org/0009-0005-9002-9716)
- Jasmine M. Shah (ORCID: https://orcid.org/0000-0003-3236-0767)
- Sabika Firasat (ORCID: https://orcid.org/0000-0003-4959-7832)
- Meng Wang (ORCID: https://orcid.org/0000-0003-2742-3559)
- Sidra Altaf (ORCID: https://orcid.org/0000-0001-7717-1375)
- Kiran Afshan (ORCID: https://orcid.org/0000-0002-3979-7606)
- Rui Chen (ORCID: https://orcid.org/0000-0002-4387-9735)
- Yumei Li (ORCID: https://orcid.org/0000-0002-4908-8459)
- Nadeem Qureshi
- Zainab Akhtar
Institutions
- Quaid-i-Azam University (PK)
- Baylor College of Medicine (US)
- University of California, Irvine (US)
Publication Details
- Journal
- Genes
- Published
- 2024-12-21
- DOI
- https://doi.org/10.3390/genes15121646
- Citations
- 1
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.23
Funders
- Research to Prevent Blindness
- Quaid-i-Azam University
- National Institutes of Health
- University of California, Irvine