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
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_s002.pdf
Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy.
Tian L et al.
Investigative Ophthalmology & Visual Science, 2017
A novel homozygous BEST1 mutation correlates with complex ocular phenotypes.
Sheng X et al.
Ophthalmology, 2013
[Clinical manifestations and gene analysis in one Chinese family with Best vitelliform macular dystrophy].
Ouyang YL et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2008
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