
A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis
Keywords: SRY; Sex-determining Region of Y chromosome; RSPO1; R-spondin 1; SOX9; SRY (sex determining region Y)-box 9; NR5A1; nuclear receptor subfamily 5, group A, member 1; WT1; Wilms tumor 1; NROB1; nuclear receptor subfamily 0, group B, member 1; WNT4; wingless