Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology

Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology

Abstract Background We performed clinical and genetic characterization of a family with cavitary optic disc anomaly (CODA), an autosomal dominant condition that causes vision loss due to adult-onset maculopathy in the majority of cases. CODA is characterized by a variably excavated optic nerve appea...

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Bibliographic Details
Main Authors: Eileen S. Hwang, Denise J. Morgan, Katie L. Pennington, Leah A. Owen, John H. Fingert, Paul S. Bernstein, Margaret M. DeAngelis
Format: Article
Language:English
Published: BMC 2019-04-01
Series:BMC Medical Genetics
Online Access:http://link.springer.com/article/10.1186/s12881-019-0800-4

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http://link.springer.com/article/10.1186/s12881-019-0800-4

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