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Paper Details

A novel phenotype associated with the R162W variant in the <i>KCNJ13</i> gene.
Ophthalmic Genet
0
2022
R162W variant, SVD, Snowflake vitreoretinal degeneration, autosomal recessive Leber congenital amaurosis, c.484C, cataract, cornea guttae, disc abnormalities, gliotic, macular dystrophy, optic disc abnormalities, presenile cataract, retinal detachment
Author NameAffiliation
Carlo RivoltaInstitute of Molecular and Clinical Ophthalmology Basel
Carlo RivoltaUniversity of Basel
Carlo RivoltaInstitute of Molecular and Clinical Ophthalmology Basel
Carlo RivoltaUniversity of Basel
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