Associated Papers
Phenotyping and genotyping FEVR: Molecular genetics, clinical and imaging features, and therapeutics.
Wang Y et al.
Progress in Retinal and Eye Research, 2025
Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.
Holtes LK et al.
Progress in Retinal and Eye Research, 2025
EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening.
Numa S et al.
Scientific Reports, 2020
33247286 (PubMed )
Supplement: 41598_2020_77558_MOESM1_ESM.pdf
Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy.
Li JK et al.
Investigative Ophthalmology & Visual Science, 2018
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.
Collin RW et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa.
Habibi I et al.
Ophthalmic Genetics, 0
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