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BESTROPHINOPATHY

National Institutes of Health

Papers overview

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2019
2019
Background Bestrophin-1 (BEST1) gene is associated with a wide range of ocular phenotypes, collectively termed as… 
2019
2019
Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD… 
2018
2018
Bestinopathies are a spectrum of retinal disorders associated with mutations in BEST1 including autosomal recessive… 
Review
2017
Review
2017
2017
2017
Herein, we report the case of an 8-year-old girl who presented in December 2000 with a submacular neovascular membrane in the… 
2016
2016
Purpose: To describe the variable ocular phenotype associated with a heterozygous mutation in the BEST1 gene. Methods: Clinical… 
Review
2015
Review
2015
A retinal pigmented epithelial (RPE) disorder, bestrophinopathy has recently been proven to be amenable to gene and cell-based… 
2015
2015
Abstract Introduction: Bestrophinopathies result from mutations within the BEST1 gene; although multiple gene mutations have been… 
2014
2014
Purpose The purpose of this study was to analyze BEST1 gene mutations in Chinese patients with bestrophinopathy and to describe…