Associated Papers
Panel-Based Genetic Testing in a Consecutive Series of Individuals with Inherited Retinal Diseases in Australia: Identifying Predictors of a Diagnosis.
Britten-Jones AC et al.
Genes, 2025
40869936 (PubMed )
Supplement: genes-16-00888-s001.zip › genes-3753886-Supplemental_materials.pdf
Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.
Katta M et al.
Ophthalmology. Retina, 2024
38522615 (PubMed )
Supplement: mmc11.pdf
A novel missense mutation in the NYX gene associated with high myopia.
Yip SP et al.
Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (optometrists), 2013
Mutations in NYX of individuals with high myopia, but without night blindness.
Zhang Q et al.
Molecular Vision, 2007
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.
Bech-Hansen NT et al.
Nature Genetics, 2000
Select a paper to view details