Protein truncating splice site variant in ALDH1A3 associated with bilateral anophthalmia identified in a multiplex consanguineous Pakistani family
The present study expands the genetic spectrum of <i>ALDH1A3</i> and contributes to establishing the genotype-phenotype correlation for this gene.
Authors
- Khalaf F. Alsharif (ORCID: https://orcid.org/0000-0002-8156-2069)
- Muzammil Ahmad Khan (ORCID: https://orcid.org/0000-0001-8591-0377)
- Muhammad Zeeshan Ali
- Kashmala Samad
Institutions
- Gomal University (PK)
- Taif University (SA)
- National University of Medical Sciences (PK)
Publication Details
- Journal
- International Journal of Ophthalmology
- Published
- 2025-10-17
- DOI
- https://doi.org/10.18240/ijo.2025.11.05
- Primary Topic
- Ocular Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Taif University