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Article

Diagnostic yield of next generation sequencing gene panel assays for early-onset glaucoma in an ethnically diverse population.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Dec 2022

Villalba Maria Fernanda, Grajewski Alana L, Tekin Mustafa, Bademci Guney, Chang Ta C

Abstract excerpt

BACKGROUND: Early-onset glaucoma is a potentially sight-threatening condition with high heritability. Next generation sequencing is a cost-effective alternative to individual gene screening that could expedite its diagnosis. However, the diagnostic yield of multigene panel assays for early-onset glaucoma varies according to the tested population. The purpose of this study was to ascertain the diagnostic yield of...

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Identifiers

PMID: 36343799
DOI: 10.1016/j.jaapos.2022.08.529
PMCID: PMC9772253

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