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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5575671/
https://www.ncbi.nlm.nih.gov/pubmed/28829391
http://dx.doi.org/10.3390/genes8080208

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5575671/
https://www.ncbi.nlm.nih.gov/pubmed/28829391
http://dx.doi.org/10.3390/genes8080208

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