Laughing child leaning back on woman's knee

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

De Sousa SM, Kassahn KS, McIntyre LC, Chong CE, Scott HS, Torpy DJ. 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. BMC Endocrine Disorders. 2016. 16 (1) : 58.