Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome

por De Sousa, Sunita M. C., Kassahn, Karin S., McIntyre, Liam C., Chong, Chan-Eng, Scott, Hamish S., Torpy, David J.
Publicado 2016