A Novel SRY Pathogenic Variant from a 46,XY Female Harboring a Nonsense
Point Mutation (G to A) in Position 293
SRY gene mutation is a common cause of 46,XY female. We report a 46,XY
female with a novel mutation of SRY c.293G>A (p.Trp98ter).
Our report provides evidence for a pathogenic role of the SRY gene
c.293G>A mutation in an individual and enlarges the
spectrum of molecular diagnosis for these patients.