Associated Papers
A unique genotype-phenotype relationship between a novel BEST1 mutation and a case of severe autosomal recessive bestrophinopathy.
Ware M et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2025
A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy.
Elbagoury NM et al.
Orphanet Journal of Rare Diseases, 2025
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