Clinical and Imaging Characteristics of PRPH2 Retinopathies in a Longitudinal Cohort and Diagnostic Implications.

چکیده

The purpose of this study was to define genotypic-phenotypic correlations related to PRPH2-associated retinopathies in an observational longitudinal cohort and to improve diagnostic accuracy. Individuals with PRPH2 variants were identified by genetic sequencing of 263 individuals (including 59…

متن کامل چکیده در سایت ناشر در دسترس است.

موضوعات مرتبط