Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD.
Federica BuonocoreOliver Clifford-MobleyThomas F J KingNiccolò StriglioniElim ManJenifer P SuntharalinghamIgnacio Del ValleLin LinCarlos F LagosGill RumsbyGerard S ConwayJohn C AchermannPublished in: Journal of the Endocrine Society (2019)
Reaching a specific diagnosis can have clinical implications and provides insight into the role of these proteins in sex development. Next-generation sequencing approaches are invaluable, especially in adult populations or where diagnostic biochemistry is not possible.