Case Report: A de novo Variant of CRYGC Gene Associated With Congenital Cataract and Microphthalmia

Case Report: A de novo Variant of CRYGC Gene Associated With Congenital Cataract and Microphthalmia

Background: Congenital cataract is one of the most common causes of blindness in children. A rapid and accurate genetic diagnosis benefit the patients in the pediatric department. The current study aims to identify the genetic defects in a congenital cataract patient without a family history.Case pr...

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Bibliographic Details
Main Authors: Yu Peng, Yu Zheng, Zifeng Deng, Shuju Zhang, Yilan Tan, Zhengmao Hu, Lijuan Tao, Yulin Luo
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-05-01
Series:Frontiers in Genetics
Subjects:
congenital cataract
crystallin
CRYGC
microphthalmia
whole-exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.866246/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.866246/full

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