Sophia Kitsiou-Tzeli, Maria Deligiorgi, Sophia Malaktari-Skarantavou, Charalampos Vlachopoulos, Spyridon Megremis, Irene Fylaktou, Joanne Traeger-Synodinos, Christina Kanaka-Gantenbein, Christodoulos Stefanadis, Emmanuel Kanavakis
OBJECTIVE: Frasier syndrome (FS) phenotype in 46,XY patients usually consists of female external genitalia, gonadal dysgenesis, high risk of gonadoblastoma and the development of end stage renal failure usually in the second decade of life. FS is caused by heterozygous de novo intronic splice site mutations …