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BackgroundProgressive retinal degeneration without retinal pigmentation has been repeatedly observed in Korean nephronophthisis (NPHP) type 1 patients with a total homozygous deletion of NPHP1.
DesignRetrospective case series.
ParticipantsPatients with clinical diagnosis of NPHP and genetic diagnosis of total deletion of NPHP1 (n = 5) were included in this study.
MethodsPatients with clinical diagnosis...
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