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
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.
Matías-Pérez D et al.
Journal of Human Genetics, 2018
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
Chassaing N et al.
Clinical Genetics, 2014
VSX2 mutations in autosomal recessive microphthalmia.
Reis LM et al.
Molecular Vision, 2011
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