Associated Papers
Rare heterozygous missense variants in VSX2 are associated with retinal detachment.
Brock DC et al.
Plos Genetics, 2026
41632798 (PubMed )
Supplement: pgen.1012027.s016.xlsx › S11_Table_-_pathogenic_variants
Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.
Smirnov VM et al.
Jama Ophthalmology, 2022
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.
Plaisancié J et al.
Human Genetics, 2019
VSX2 mutations in autosomal recessive microphthalmia.
Reis LM et al.
Molecular Vision, 2011
Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.
Iseri SU et al.
Human Genetics, 2010
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