Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole-exome sequencing.
Oxana Yu NaumovaSergey Yu RychkovOlga V BurenkovaMaria Yu SolodunovaIrina V PolyanskayaIrina A ArintcinaMarina A ZhukovaIrina V OvchinnikovaOlga V ZhukovaElena L GrigorenkoPublished in: Clinical case reports (2020)
The study shows that whole-exome sequencing is a promising approach to detect novel variants-and gene candidates in DSD, that, as a future direction, may improve the diagnostic gene panels for this heterogeneous disorder.