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
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
A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation.
Takagi M et al.
Hormone Research in Paediatrics, 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
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
Schneider A et al.
American Journal of Medical Genetics. Part A, 2009
The role of SOX2 in hypogonadotropic hypogonadism.
Tziaferi V et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2008
Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2.
Sato N et al.
European Journal of Endocrinology, 2007
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