Article
Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach.
Eye (London, England) - 1 Sept 2016
Musleh M, Hall G, Lloyd I C, Gillespie R L, Waller S, Douzgou S, Clayton-Smith J, Kehdi E, Black G C M, Ashworth J
Abstract excerpt
PurposeIn addition to environmental causes such as TORCH infection, trauma and drug or chemical exposure, childhood cataracts (CC) frequently have a genetic basis. They may be isolated or syndromic and have been associated with mutations in over 110 genes. We have recently demonstrated that next-generation sequencing (NGS), a high throughput sequencing technique that enables the parallel sequencing of multiple...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.