Associated Papers
A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients.
Iarossi G et al.
Diagnostics (basel, Switzerland), 2022
Clinical characterization of autosomal dominant retinitis pigmentosa with NRL mutation in a three-generation Japanese family.
Mizobuchi K et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2022
Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome.
Newman H et al.
Investigative Ophthalmology & Visual Science, 2016
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