Article
Genetics and ocular disorders: a focused review.
Pediatric clinics of North America - 1 Jun 2014
Scanga Hannah L, Nischal Ken K
Abstract excerpt
Increasingly accurate phenotyping leads to better genetic evaluation. Genetic eye conditions may be due to a common cellar defect (eg, ciliopathies or RASopathies). Early-onset retinal dystrophies may be associated with renal disease. An understanding of genetic testing helps clinicians identify shortcomings in testing which may lead to a better understanding of the most appropriate test for a given ocular...
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