Pathogenic genetic variants identified in Australian families with paediatric cataract

Pathogenic genetic variants identified in Australian families with paediatric cataract

Objective Paediatric (childhood or congenital) cataract is an opacification of the normally clear lens of the eye and has a genetic basis in at least 18% of cases in Australia. This study aimed to replicate clinical gene screening to identify variants likely to be causative of disease in an Australi...

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Bibliographic Details
Main Authors: David A Mackey, Emmanuelle Souzeau, Jamie E Craig, Jonathan B Ruddle, Bennet J McComish, Kathryn P Burdon, Jac C Charlesworth, Sandra E Staffieri, Johanna L Jones, Lisa S Kearns, James E Elder, Deepa Taranath, John Pater, Theresa Casey
Format: Article
Language:English
Published: BMJ Publishing Group 2022-10-01
Series:BMJ Open Ophthalmology
Online Access:https://bmjophth.bmj.com/content/7/1/e001064.full

Internet

https://bmjophth.bmj.com/content/7/1/e001064.full

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