Condition: Microphthalmia, Syndromic 3


rs104893805 in SOX2;SOX2-OT gene and Microphthalmia, Syndromic 3 PMID 24033328 2014 Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

PMID 12612584 2003 Mutations in SOX2 cause anophthalmia.

PMID 19921648 2009 Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

PMID 24211324 2014 A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.

PMID 24498598 2013 Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.

PMID 22171155 2011 Parent-of-origin effects in SOX2 anophthalmia syndrome.