Genetic Studies on Multiple Consanguineous Families Segregating Diverse Phenotypes of Microphthalmia Identified Novel and Recurrent Mutations
Our findings may contribute to the elucidation of genotype-phenotype correlations, potentially facilitating the molecular diagnosis of microphthalmia and ASD.
Authors
- Abdulfatah M. Alayoubi (ORCID: https://orcid.org/0000-0001-9250-940X)
- Fazeelat Samad
- Sumra Wajid Abbasi (ORCID: https://orcid.org/0000-0002-4998-937X)
- Muzammil Ahmad Khan (ORCID: https://orcid.org/0000-0001-8591-0377)
- Muhammad Latif (ORCID: https://orcid.org/0000-0003-4858-3324)
- Aisha Siddiqua
- Mohammed Turki Hussain Alharthi (ORCID: https://orcid.org/0000-0002-1730-2086)
- Hussam Baghdadi
- Kashmala Samad
Institutions
- Gomal University (PK)
- Taibah University (SA)
- National University of Medical Sciences (PK)
Publication Details
- Journal
- Current Medicinal Chemistry
- Published
- 2025-05-05
- DOI
- https://doi.org/10.2174/0109298673365255250418092319
- Primary Topic
- Ocular Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00