A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female

The SRY initiates cascade of gene expression that transforms the undifferentiated gonad, genital ridge into testis. Mutations of the SRY gene is associated with complete gonadal dysgenesis in females with 46,XY karyotype. Primary amenorrhea is one of the clinical findings to express the genetic caus...

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