Case Report: A family of congenital cataract caused by a novel mutation in the CRYGC gene c.52G>A

Case Report: A family of congenital cataract caused by a novel mutation in the CRYGC gene c.52G>A

BackgroundCongenital cataract refers to lens opacity present at birth or progressively developing in the neonatal period, caused by inherited genetic abnormalities or developmental disorders. The etiology of congenital cataract is multifactorial, and its exact pathogenesis remains incompletely under...

Full description

Saved in:
Bibliographic Details
Main Authors: Shuying Ma, Yao Lu, Xiao Shao, Qingyan Liu, Xin Yin, Min Xue
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Medicine
Subjects:
congenital cataracts
CRYGC gene
whole exome sequencing
missense mutations
genetic disease
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2025.1624834/full
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://www.frontiersin.org/articles/10.3389/fmed.2025.1624834/full

Similar Items