A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy

BMC ophthalmology, Vol. 22, Issue 1, Pages 493, 2022

PMID: 36527004

To describe the clinical features, imaging characteristics, and genetic test results associated with a novel compound heterozygous mutation of the BEST1 gene in two siblings with autosomal recessive bestrophinopathy.

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