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Autosomal Dominant Vitreoretinochoroidopathy With a Novel BEST1 Mutation and a Review of Reported Mutations

Here we describe a patient with atypical presentation of autosomal dominant vitreoretinochoroidopathy (ADVIRC) with a novel missense mutation in BEST1 gene and briefly review reported ADVIRC-associated genetic mutations. The patient is a 71-year-old African American female who presented with progres...

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Detalles Bibliográficos
Autores principales:	Komro, Jack, Skender, Sarah, Ross, Bing X, Lin, Xihui
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9878615/ https://www.ncbi.nlm.nih.gov/pubmed/36712704 http://dx.doi.org/10.7759/cureus.32990

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