A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290

Purpose: To identify the gene defect and to study the clinical characteristics and natural course of disease in a family originally diagnosed with oligocone trichromacy (OT), a rare congenital cone dysfunction syndrome. Methods: Extensive clinical and ophthalmologic assessment was performed on two s...

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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Roosing, Susanne, Cremers, Frans P. M., Riemslag, Frans C. C., Zonneveld-Vrieling, Marijke N., Talsma, Herman E., Klessens-Godfroy, Francoise J. M., den Hollander, Anneke I., van den Born, L. Ingeborgh
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5575671/
https://ncbi.nlm.nih.gov/pubmed/28829391
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes8080208
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