Clinical and genetic characterization of BEST1-associated retinal dystrophies in the Norwegian population.

چکیده

BEST1 variants are the third leading cause of inherited retinal dystrophies in Norway. The purpose of this study was to describe the BEST1-associated retinal dystrophy (BEST1-RD) population genetically and clinically, and to determine the prevalence of BEST1-RD in Southern and Eastern Norway. This…

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موضوعات مرتبط

• چشم پزشکی کودکان
• شبکیه