Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy
Report on ten patients with ARB due to mutations in BEST1 characterizing their clinical features and genetic mutations.
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Feb 18, 2022
Novel mutations in the BEST1 gene cause distinct retinopathies in two Chinese families
Zhi-Hong Zhu , Xin Jin , Yi-Xin Zhang , Rui Wang , Tong Wu , Wei Liu , Ze-Hua Chen , Hai-Nan Xie , Lan-Lan Chen , Zi-Hao Liu , Hou-Bin...
Dec 13, 2019
Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations
Retinal phenotypes of six BVMD patients with different BEST1 mutations.
Sep 29, 2016
Association of a BEST1 Mutation with Retinitis Pigmentosa
BEST1 mutations play a role in some cases of RP. However, it's difficult to understand why some mutations associate with peripheral retinal
Mar 29, 2016
Retinitis pigmentosa associated with a mutation in BEST1
Presents a patient with a clinical phenotype consistent with classic features of RP.
May 2, 2009
Spectrum of the ocular phenotypes caused by BEST1 gene mutations
Histopathologic observations in BEST1-related diseases that expand our insight in the pathogenesis. Plus perspectives on future therapeutics
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