Associated Papers
NRL-associated autosomal recessive retinopathy: novel variants expanding the phenotype, natural history and a comprehensive literature search.
Raza M et al.
Ophthalmic Genetics, 2026
Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development.
Sun C et al.
Frontiers in Molecular Neuroscience, 2023
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
Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa.
El-Asrag ME et al.
Molecular Vision, 2022
Goldmann-Favre/Enhanced S Cone Syndrome, 30 years mysdiagnosed as gyrate atrophy.
García Caride S et al.
American Journal of Ophthalmology Case Reports, 2021
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