Associated Papers
Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function Correlation.
Bitan J et al.
Investigative Ophthalmology & Visual Science, 2025
40891781 (PubMed )
Supplement: iovs-66-12-4_s009.xlsx › A._Variants_description
Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy.
Shi J et al.
Investigative Ophthalmology & Visual Science, 2023
37747403 (PubMed )
Supplement: iovs-64-12-37_s008.xlsx › Sheet1
Atypical Foveal Hypoplasia in Best Disease.
Moret E et al.
Journal of Personalized Medicine, 2023
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
34015078 (PubMed )
Supplement: iovs-62-6-22_s001.pdf
Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.
Tian R et al.
Molecular Vision, 2014
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