A de novo mutation (Gln2Stop) at the 5' end of the SRY gene leads to sex reversal with partial ovarian function.
Brown
S
S
Yu
C
C
Lanzano
P
P
Heller
D
D
Thomas
L
L
Warburton
D
D
Kitajewski
J
J
Stadtmauer
L
L
D000328:Adult; D003062:Codon; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D009687:Nuclear Proteins; D017354:Point Mutation; D019849:Sex Determination Processes; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors
D003062:Codon; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors