Article
High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.
G3 (Bethesda, Md.) - 5 Oct 2017
Javadiyan Shari, Craig Jamie E, Souzeau Emmanuelle, Sharma Shiwani, Lower Karen M, Mackey David A, Staffieri Sandra E, Elder James E, Taranath Deepa, Straga Tania, Black Joanna, Pater John, Casey Theresa, Hewitt Alex W, Burdon Kathryn P
Abstract excerpt
Pediatric cataract is a leading cause of childhood blindness. This study aimed to determine the genetic cause of pediatric cataract in Australian families by screening known disease-associated genes using massively parallel sequencing technology. We sequenced 51 previously reported pediatric cataract genes in 33 affected individuals with a family history (cases with previously known or published mutations were...
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