Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort

Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort

Abstract Corneal dystrophies describe a clinically and genetically heterogeneous group of inherited disorders. The International Classification of Corneal Dystrophies (IC3D) lists 22 types of corneal dystrophy, 17 of which have been demonstrated to result from pathogenic variants in 19 identified ge...

Full description

Bibliographic Details
Main Authors: Emmanuelle Souzeau, Owen M. Siggs, Sean Mullany, Joshua M. Schmidt, Mark M. Hassall, Andrew Dubowsky, Angela Chappell, James Breen, Haae Bae, Jillian Nicholl, Johanna Hadler, Lisa S. Kearns, Sandra E. Staffieri, Alex W. Hewitt, David A. Mackey, Aanchal Gupta, Kathryn P. Burdon, Sonja Klebe, Jamie E. Craig, Richard A. Mills
Format: Article
Language:English
Published: Wiley 2022-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
corneal dystrophy
genetic testing
molecular diagnosis
TGFBI
Online Access:https://doi.org/10.1002/mgg3.2023

Internet

https://doi.org/10.1002/mgg3.2023

Similar Items