Duplication of SOX9 associated with 46,XX ovotesticular disorder of sex development

Conclusion This study is thought to be the first report regarding a duplication of SOX9 that is associated with the presence of 46,XX ovotesticular DSD, encompassing at least –581 kb upstream, the entire coding region of the gene.
Source: Reproductive BioMedicine Online - Category: Reproduction Medicine Source Type: research