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
Genotypic and phenotypic spectrum of anophthalmia/microphthalmia in families from Khyber Pakhtunkhwa, Pakistan.
Dawood M et al.
Journal of Human Genetics, 2025
Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.
Cain B et al.
Biorxiv : the Preprint Server for Biology, 2025
41279221 (PubMed )
Supplement: media-2.xlsx › SuppTable2
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S5
Clinical genetics and genomic medicine in Qatar.
Al-Dewik N et al.
Molecular Genetics & Genomic Medicine, 2018
Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation.
Khan AO et al.
Ophthalmic Genetics, 2015
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
Naturally occurring animal models with outer retina phenotypes.
Baehr W et al.
Vision Research, 2009
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar.
Faiyaz-Ul-Haque M et al.
Clinical Genetics, 2007
Homeodomain revisited: a lesson from disease-causing mutations.
Chi YI
Human Genetics, 2005
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.
Bar-Yosef U et al.
Human Genetics, 2004
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Percin EF, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AMV, Kalnins VI, Kocak-Altintas A, Sowden JC, Trabousli E, Sarfarazi M, McInnes RR.*(1) Nat Gen 2000;25:397-401.
Unknown Author
American Journal of Ophthalmology, 2001
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.
Ferda Percin E et al.
Nature Genetics, 2000
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