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

Internet

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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