Increased Expression of ZFPM2 Bypasses SRY to Drive 46,XX Testicular Development: A New Mechanism of 46,XX DSD
Leah Ragno, Daphne Yang, Trisha Bhatti, Jonathan P. Bradfield, Diane K. Bowen, Katheryn Grand, Hakon H. Hakonarson, Thomas F. Kolon, Joseph Glessner, Marie Celeste Simon, Nicolas Skuli, Maria George Vogiatzi, Marie A. Guerraty, Matthew A. Deardorff, Louise C. Pyle
This paper identifies increased ZFPM2 dosage as a mechanism for 46,XX testicular development independent of SRY in a mosaic individual.
medRxiv · May 27, 2024 · PreprintGenetic & Genomic Medicine