Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy

PURPOSE: Autosomal recessive bestrophinopathy (ARB) and vitelliform macular dystrophy (VMD) are distinct phenotypes, typically inherited through recessive and dominant patterns, respectively. Recessively inherited VMD (arVMD) has been reported, suggesting that dominant and recessive BEST1-related re...

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Detalhes bibliográficos
Publicado no:Invest Ophthalmol Vis Sci
Main Authors: Pfister, Tyler A., Zein, Wadih M., Cukras, Catherine A., Sen, Hatice N., Maldonado, Ramiro S., Huryn, Laryssa A., Hufnagel, Robert B.
Formato: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2021
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8142704/
https://ncbi.nlm.nih.gov/pubmed/34015078
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.62.6.22
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