Genetic & Genomic MedicinemedRxivPreprint
MAP3K7 novel variants in syndromic 46,XY DSD
Thanh Nha Uyen Le, Shirin Moradifard, Alejandra P. Reyes…·Vincent R. Harley
This paper reports three novel MAP3K7 variants in 46,XY DSD patients with syndromes CSCF or FMD2, showing their role in male sex differentiation through GATA4/FOG2 expression and Wnt signaling.
DOI 10.64898/2026.05.05.26352427