Developmental or degenerative – NR2E3 gene mutations in two patients with enhanced S cone syndrome

PURPOSE: Enhanced S Cone Syndrome is a rare autosomal recessive disorder characterized clinically by an absence of rod function, a replacement of most L and M cone function by S cone activity (Goldmann-Favre Syndrome) and by variable degrees of retinal degeneration in different families. The causati...

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Detalles Bibliográficos
Autores principales: Udar, Nitin, Small, Kent, Chalukya, Meenal, Silva-Garcia, Rosamaria, Marmor, Michael
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3044695/
https://www.ncbi.nlm.nih.gov/pubmed/21364904

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3044695/
https://www.ncbi.nlm.nih.gov/pubmed/21364904

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