Cell BiologybioRxivPreprint
Altered RNA-processing provides a mechanistic framework delineating human sex reversal associated with pathogenic variants in the RNA-helicase DHX37
Maëva Elzaïat, Estelle Talouarn, Somboon Wankanit…·Anu Bashamboo
This study identifies how DHX37 variants disrupt RNA processing and gene expression in Sertoli-like cells, leading to 46,XY sex reversal.