A novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patient

@inproceedings{Man2013ANM,
  title={A novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patient},
  author={Elim Man and Y M Tung and Ho-Ming Luk and Fai-man Ivan Lo and Tak-sum Stephen Lam and Pik-to Cheung},
  year={2013}
}
Introduction Complete gonadal dysgenesis with 46 XY karyotype, also known as Swyer-James syndrome, is characterized by complete sex reversal with a female phenotype and unambiguous female external genitalia. Sex-determining region Y (SRY) gene mutations causing loss-of-function of the gene were identified in 10-15% of affected individuals. These individuals… CONTINUE READING