Associated Papers
SOX2-VSX2 Co-Occupancy Shapes Retinal Neurogenesis Through Dynamic Chromatin Regulation.
Bian F et al.
Biorxiv : the Preprint Server for Biology, 2025
SOX2-driven enhancer landscape defines the transcriptional architecture of retinogenesis.
Bian F et al.
Development (cambridge, England), 2024
Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.
Underwood A et al.
Genes, 2023
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
Chassaing N et al.
Clinical Genetics, 2014
A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.
Takagi M et al.
Hormone Research in Paediatrics, 2014
Chromosome aberrations and gene mutations in patients with esophageal atresia.
Bednarczyk D et al.
Journal of Pediatric Gastroenterology and Nutrition, 2013
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 in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.
Williamson KA et al.
Human Molecular Genetics, 2006
Select a paper to view details