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
Atypical Foveal Hypoplasia in Best Disease.
Moret E et al.
Journal of Personalized Medicine, 2023
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J et al.
Scientific Reports, 2018
29555955 (PubMed )
Supplement: 41598_2018_22096_MOESM1_ESM.pdf
Autosomal recessive bestrophinopathy associated with angle-closure glaucoma.
Crowley C et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2014
Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive Bestrophinopathy.
Witsberger E et al.
Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 0
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