Associated Papers
A homozygous NRL variant (c.339C>G; p.Try113*) underlies enhanced-S-cone syndrome in the United Arab Emirates and is associated with an electronegative electroretinogram.
Khan AO
Ophthalmic Genetics, 2026
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
Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome.
Littink KW et al.
Genes, 2018
Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.
Kanda A et al.
Human Mutation, 2007
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