Associated Papers
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.
Mauri L et al.
European Journal of Medical Genetics, 2015
Parent-of-origin effects in SOX2 anophthalmia syndrome.
Osborne RJ et al.
Molecular Vision, 2011
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
Schneider A et al.
American Journal of Medical Genetics. Part A, 2009
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.
Bakrania P et al.
The British Journal of Ophthalmology, 2007
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