A novel SOX2 frameshift pathogenic variant located in the transactivation domain in a male infant with hypogonadotropic hypogonadism

Clin Pediatr Endocrinol. 2024 Oct;33(4):244-248. doi: 10.1297/cpe.2024-0013. Epub 2024 Aug 19.

¹ Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
² Division of Neonatal Intensive Care, Tokyo Women's Medical University, Adachi Medical Center, Tokyo, Japan.

No abstract available

Keywords: SOX2; hypogonadotropic hypogonadism; novel variant; septo-optic dysplasia.