ATR-X syndrome and gonadal development

Research area

 |  sex determination


 |  sex determination, ATRX syndrome, human genetics, intersex


 |  PhD/Doctorate, Honours, Masters

Contact supervisors at any time

Professor Vincent Harley

Project description

The ATR-X syndrome, an X-linked recessive developmental disorder affecting males, belongs to a growing list of intersex conditions which affect 1% of all newborns. Clinical features include mental retardation, alpha-thalassemia, and skeletal and genital abnormalities. The focus of our work is to investigate the role of ATRX in gonadal development.