A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia

A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia

Abstract Background To identify the disease-causing gene in a Chinese family affected with congenital aniridia. Methods Patients underwent systematic ophthalmic examinations such as anterior segment photography, fundus photography, optical coherence tomography, and fundus fluorescein angiography. Th...

Full description

Bibliographic Details
Main Authors: Yinwen Li, Jieqiong Chen, Ying Zheng, Zhixuan Chen, Tao Wang, Qian Sun, Xiaoling Wan, Haiyun Liu, Xiaodong Sun
Format: Article
Language:English
Published: BMC 2023-09-01
Series:BMC Ophthalmology
Subjects:
Aniridia
PAX6
Copy number variant
Microdeletion
Regulatory elements
Online Access:https://doi.org/10.1186/s12886-023-03147-1

Internet

https://doi.org/10.1186/s12886-023-03147-1

Similar Items