Novel ATOH7 mutation and structural characterization in families with optic nerve hypoplasia

Novel ATOH7 mutation and structural characterization in families with optic nerve hypoplasia

AIM: To detect and segregate causative mutations in congenital families with optic nerve hypoplasia (ONH). METHODS: Two unrelated consanguineous Pakistani families with severe ONH, showing features of micropthalmia, nystagmus, corneal opacity, and keratopathy were included. Genetic analysis was carr...

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Bibliographic Details
Main Authors: Muhammad Ikram Ullah, Rubina Dad, Zaira Rehman, Muhammad Shakil, Abdullah Alsrhani, Ayman Ali Mohammed Alameen, Heba Bassiony Ghanem, Emad Manni, Muhammad Umer Khan, Muhammad Atif
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2025-09-01
Series:International Journal of Ophthalmology
Subjects:
optic nerve hypoplasia
congenital families
atoh7 gene
novel mutation
disorder protein
structural analysis
Online Access:http://ies.ijo.cn/en_publish/2025/9/20250912.pdf
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