Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms
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DOI: 10.1172/jci.insight.164324
Abstract: Pathogenic SRY-box transcription factor 2 (SOX2) variants typically cause severe ocular defects within a SOX2 disorder spectrum that includes hypogonadotropic hypogonadism. We examined exome-sequencing data from a large, well-phenotyped cohort of patients with idiopathic hypogonadotropic… read more here.
Keywords: sox2; idiopathic hypogonadotropic; sox2 variants; hypogonadotropic hypogonadism ... See more keywords