Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature

Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature

Corneal dystrophies (CDs) represent a group of inherited diseases characterized by the progressive deposit of abnormal materials in the cornea. This study aimed to describe the variant landscape of 15 genes responsible for CDs based on a cohort of Chinese families and a comparative analysis of liter...

Full description

Bibliographic Details
Main Authors: Di Zhu, Junwen Wang, Yingwei Wang, Yi Jiang, Shiqiang Li, Xueshan Xiao, Panfeng Wang, Qingjiong Zhang
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:International Journal of Molecular Sciences
Subjects:
corneal dystrophies
variants spectrum
<i>TGFBI</i>
<i>CHST6</i>
<i>SLC4A11</i>
<i>ZEB1</i>
Online Access:https://www.mdpi.com/1422-0067/24/5/5012

Internet

https://www.mdpi.com/1422-0067/24/5/5012

Similar Items