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See Latest ArticlesThe spectrum of ocular phenotypes caused by mutations in the BEST1 gene
Progress in Retinal and Eye Research, 06/29/09
Boon CJF et al. - The purpose of this review is to describe this spectrum of phenotypes, which includes Best vitelliform macular dystrophy and adult-onset foveomacular vitelliform dystrophy, autosomal dominant vitreoretinochoroidopathy, the MRCS syndrome, and autosomal recessive bestrophinopathy. The genotype–phenotype correlations that are observed in association with BEST1 mutations are discussed.
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