Article
Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2017
Rehkämper Jan, Tewes Ann-Christin, Horvath Judit, Scherer Gerd, Wieacker Peter, Ledig Susanne
Abstract excerpt
46,XY gonadal dysgenesis (46,XY GD) is a disorder of sexual development caused by mutations in genes involved in early gonadal development (bipotential gonads) and testis differentiation. In 46,XY GD individuals, mutations of the SRY gene are detected most frequently, followed by mutations in the NR5A1 (SF-1) gene, but in a lot of cases, the underlying molecular mechanism remains elusive. In this study, we...
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