Associated Papers
Clinical and Genetic Features of NR2E3-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review.
Xiao S et al.
Genes, 2023
37628579 (PubMed )
Supplement: genes-14-01525-s001.zip › Supplementary_table_S2-R1.xlsx › __
Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease.
Toms M et al.
Genes, 2023
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32037395 (PubMed )
Supplement: NIHMS1572593-supplement-Supplementary_Tables.xlsx › Table_S2-solutions
Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy.
Murro V et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2019
Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.
Bocquet B et al.
Molecular Vision, 2013
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