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

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 appearance su...

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Detalles Bibliográficos
Autores principales: Hwang, Eileen S., Morgan, Denise J., Pennington, Katie L., Owen, Leah A., Fingert, John H., Bernstein, Paul S., DeAngelis, Margaret M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6487068/
https://www.ncbi.nlm.nih.gov/pubmed/31029096
http://dx.doi.org/10.1186/s12881-019-0800-4

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