Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing

Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing

Abstract Primary Congenital Glaucoma (PCG) is a severe form of glaucoma that affects infants and young children that damage and causes vision impairment. Despite being a well-known condition, the genetic basis of PCG, particularly in highly consanguineous populations like the Pashtun community, stil...

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Main Authors: Shahzad Ahmad, Muhammad Saleem Gandapur, Musharraf Jelani, Anees Muhammad, Ihtisham Ul Haq, Yousaf Jamal Mahsood, Sajjad Ahmad, Wadi B. Alonazi, Nousheen Bibi, Muhammad Tahir Sarwar, Taj Ali Khan
Format: Article
Language:English
Published: Nature Portfolio 2025-04-01
Series:Scientific Reports
Subjects:
Consanguineous
Exome sequencing
Primary congenital Glaucoma
Pathogenic
Variants
Online Access:https://doi.org/10.1038/s41598-025-85913-3
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https://doi.org/10.1038/s41598-025-85913-3

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