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
Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms.
Cassin J et al.
Jci Insight, 2023
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