Autosomal recessive bestrophinopathy associated with angle-closure glaucoma

PURPOSE: Abnormalities in the BEST1 gene have recently been recognised as causing autosomal recessive bestrophinopathy (ARB). ARB has been noted to have a variable phenotypic presentation, distinct from that of autosomal dominant Best vitelliform macular dystrophy (BVMD). Both conditions are associa...

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Detalles Bibliográficos
Autores principales: Crowley, C., Paterson, R., Lamey, T., McLaren, T., De Roach, J., Chelva, E., Khan, J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2014
Materias:
Clinical Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4074353/
https://www.ncbi.nlm.nih.gov/pubmed/24859690
http://dx.doi.org/10.1007/s10633-014-9444-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4074353/
https://www.ncbi.nlm.nih.gov/pubmed/24859690
http://dx.doi.org/10.1007/s10633-014-9444-z

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