title: A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans.
authors.forename: J C
authors.initials: JC
authors.lastname: Achermann
authors.forename: M
authors.initials: M
authors.lastname: Ito
authors.forename: M
authors.initials: M
authors.lastname: Ito
authors.forename: P C
authors.initials: PC
authors.lastname: Hindmarsh
authors.forename: J L
authors.initials: JL
authors.lastname: Jameson
mesh_terms: D000309:Adrenal Insufficiency / Q000235:genetics* / Q000473:pathology; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D012734:Disorders of Sex Development; D005091:Exons; D005260:Female; D051717:Fushi Tarazu Transcription Factors; D018398:Homeodomain Proteins; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D018160:Receptors, Cytoplasmic and Nuclear; D054339:Steroidogenic Factor 1; D013737:Testis / Q000473:pathology; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome; D016335:Zinc Fingers
chemical_list: D003062:Codon; D004268:DNA-Binding Proteins; D051717:Fushi Tarazu Transcription Factors; D018398:Homeodomain Proteins; C515057:NR5A1 protein, human; D018160:Receptors, Cytoplasmic and Nuclear; D054339:Steroidogenic Factor 1; D014157:Transcription Factors