A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus

A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus

Abstract Background The aim of this study is to identify the genetic defect in a Chinese family with congenital aniridia combined with cataract and nystagmus. Methods Complete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, anterior segment photography, a...

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Bibliographic Details
Main Authors: Tianwei Qian, Chong Chen, Caihua Li, Qiaoyun Gong, Kun Liu, Gao Wang, Isabelle Schrauwen, Xun Xu
Format: Article
Language:English
Published: BMC 2021-10-01
Series:BMC Ophthalmology
Subjects:
Congenital aniridia
PAX6
Deletion
Copy number variant
Online Access:https://doi.org/10.1186/s12886-021-02120-0

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