A novel GJA3 mutation causing autosomal dominant congenital perinuclear cataracts

Abstract Objective To identify the cause of congenital perinuclear cataracts in a Chinese family and its underlying mechanism. Methods Family history and clinical data were recorded, and candidate genes were amplified by polymerase chain reaction (PCR) and screened for mutations using direct bidirec...

Full description

Saved in:
Bibliographic Details
Main Authors: Yanan Zhu, Nanlan Li, Ke Yao, Wei Wang, Jinyu Li
Format: Article
Language:English
Published: BMC 2025-04-01
Series:BMC Ophthalmology
Subjects:
Online Access:https://doi.org/10.1186/s12886-025-03978-0
Tags: Add Tag
No Tags, Be the first to tag this record!