Associated Papers
Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.
Underwood A et al.
Genes, 2023
Genetic causes of optic nerve hypoplasia.
Chen CA et al.
Journal of Medical Genetics, 2017
A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.
Takagi M et al.
Hormone Research in Paediatrics, 2014
SOX2 regulates the hypothalamic-pituitary axis at multiple levels.
Jayakody SA et al.
The Journal of Clinical Investigation, 2012
Disruption of SoxB1-dependent Sonic hedgehog expression in the hypothalamus causes septo-optic dysplasia.
Zhao L et al.
Developmental Cell, 2012
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
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.
Kelberman D et al.
The Journal of Clinical Investigation, 2006
SOX2 anophthalmia syndrome.
Ragge NK et al.
American Journal of Medical Genetics. Part A, 2005
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