title: A de novo mutation (Gln2Stop) at the 5' end of the SRY gene leads to sex reversal with partial ovarian function.
authors.forename: S
authors.initials: S
authors.lastname: Brown
authors.forename: C
authors.initials: C
authors.lastname: Yu
authors.forename: P
authors.initials: P
authors.lastname: Lanzano
authors.forename: D
authors.initials: D
authors.lastname: Heller
authors.forename: L
authors.initials: L
authors.lastname: Thomas
authors.forename: D
authors.initials: D
authors.lastname: Warburton
authors.forename: J
authors.initials: J
authors.lastname: Kitajewski
authors.forename: L
authors.initials: L
authors.lastname: Stadtmauer
mesh_terms: 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
chemical_list: D003062:Codon; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors