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

ConclusionThis 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, and the almost entire coding region of the gene.

Source: Reproductive BioMedicine Online - July 11, 2018 Category: Reproduction Medicine Source Type: research