A Novel <i>PAX6</i> Frameshift Mutation Identified in a Large Chinese Family with Congenital Aniridia

A Novel <i>PAX6</i> Frameshift Mutation Identified in a Large Chinese Family with Congenital Aniridia

Congenital aniridia is a rare autosomal dominant congenital ocular disorder. Genetic studies suggest that heterozygous mutations in the developmental regulator <i>PAX6</i> gene or the related regulatory regions leading to haploinsufficiency are the main cause of congenital aniridia. In t...

Full description

Bibliographic Details
Main Authors: Chenghu Wang, Weihua Yang, Xiumiao Li, Chenchen Zhou, Jinghua Liu, Ling Jin, Qin Jiang, Yun Wang
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:Journal of Personalized Medicine
Subjects:
aniridia
<i>PAX6</i> gene
targeted gene capture sequencing
frameshift
autosomal recessive inheritance
Online Access:https://www.mdpi.com/2075-4426/13/3/442

Internet

https://www.mdpi.com/2075-4426/13/3/442

Similar Items