Associated Papers
A novel SOX2 frameshift pathogenic variant located in the transactivation domain in a male infant with hypogonadotropic hypogonadism.
Kimura-Yoshida A et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2024
Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing.
Yang Y et al.
Npj Genomic Medicine, 2022
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
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.
Blackburn PR et al.
American Journal of Medical Genetics. Part A, 2018
Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.
Gorman KM et al.
American Journal of Medical Genetics. Part A, 2016
Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.
Suzuki J et al.
Journal of Human Genetics, 2014
Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.
McCabe MJ et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2011
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
The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism.
Kelberman D et al.
Annals of Medicine, 2006
Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia.
Ammar THA et al.
Ophthalmic Genetics, 0