Abstract
Congenital cataracts and early-onset glaucoma are potentially sight-threatening diseases with high heritability. Next generation sequencing is a cost-effective alternative to individual gene screening. Currently, the diagnostic yield of gene panel assays for these anomalies remains uncertain. Our purpose is to ascertain the diagnostic yield of two such panel assays, and to identified patient characteristics associated with higher diagnostic yield.
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Schedule a callMore From: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
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