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_s014.xlsx › A._Variants_description
A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy.
Haque OI et al.
Bmc Ophthalmology, 2022
Phenotype and genetic spectrum of six Indian patients with bestrophinopathy.
Shakeel A et al.
Taiwan Journal of Ophthalmology, 0
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