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
SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum.
Okoye O et al.
American Journal of Medical Genetics. Part A, 2023
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
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.
Stark Z et al.
European Journal of Human Genetics : Ejhg, 2011
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