Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import
Keywords: AR; androgen receptor; CYP11A1; cytochrome P450 family 11 subfamily a member 1; CYP17A1; cytochrome P450 family 17 subfamily a member 1; DHH; desert hedgehog; DMRT1/2/3; doublesex and mab-3 related transcription factor 1/2/3; DSD; disorders of sex develop