Associated Papers
Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.
Amlie-Wolf L et al.
American Journal of Medical Genetics. Part A, 2022
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
Schneider A et al.
American Journal of Medical Genetics. Part A, 2009
Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.
Schneider A et al.
American Journal of Medical Genetics. Part A, 2008
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.
Zhou J et al.
Molecular Vision, 2008
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