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Article

Pathogenic genetic variants identified in Australian families with paediatric cataract.

BMJ open ophthalmology - 1 Aug 2022

Jones Johanna L, McComish Bennet J, Staffieri Sandra E, Souzeau Emmanuelle, Kearns Lisa S, Elder James E, Charlesworth Jac C, Mackey David A, Ruddle Jonathan B, Taranath Deepa, Pater John, Casey Theresa, Craig Jamie E, Burdon Kathryn P

Abstract excerpt

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 Australian patient cohort. METHODS AND ANALYSIS: Sixty-three reported isolated cataract genes were screened for rare coding...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36161833
DOI: 10.1136/bmjophth-2022-001064
PMCID: PMC9422809

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