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...

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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

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