Retinitis pigmentosa associated with a mutation in BEST1

PURPOSE: There is only one prior report associating mutations in BEST1 with a diagnosis of retinitis pigmentosa (RP). The imaging studies presented in that report were more atypical of RP and shared features of autosomal recessive bestrophinopathy and autosomal dominant vitreoretinochoroidopathy. He...

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Detalles Bibliográficos
Autores principales: Dalvin, Lauren A., Abou Chehade, Jackson E., Chiang, John, Fuchs, Josefine, Iezzi, Raymond, Marmorstein, Alan D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5757359/
https://www.ncbi.nlm.nih.gov/pubmed/29503890
http://dx.doi.org/10.1016/j.ajoc.2016.03.005

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