A clinical and molecular characterisation of CRB1-associated maculopathy

To date, over 150 disease-associated variants in CRB1 have been described, resulting in a range of retinal disease phenotypes including Leber congenital amaurosis and retinitis pigmentosa. Despite this, no genotype–phenotype correlations are currently recognised. We performed a retrospective review...

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Detalles Bibliográficos
Autores principales: Khan, Kamron N., Robson, Anthony, Mahroo, Omar A. R., Arno, Gavin, Inglehearn, Chris F., Armengol, Monica, Waseem, Naushin, Holder, Graham E., Carss, Keren J., Raymond, Lucy F., Webster, Andrew R., Moore, Anthony T., McKibbin, Martin, van Genderen, Maria M., Poulter, James A., Michaelides, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945653/
https://www.ncbi.nlm.nih.gov/pubmed/29391521
http://dx.doi.org/10.1038/s41431-017-0082-2

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