Genetic & Genomic MedicinemedRxivPreprint
Biallelic CYB5A disruptions in 46,XY Disorder of Sex Development: Identification and Characterization of a Novel Deep Intronic Variant
Shirin Moradifard, Thanh Nha Uyen Le, Nguyễn Thu Hà…·Vincent R. Harley
The paper identifies and characterizes a novel deep intronic variant in CYB5A causing 46,XY DSD through whole-genome sequencing and functional assays.
DOI 10.64898/2026.05.05.26352416