A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

Nat Genet. 1999 Jun;22(2):125-6. doi: 10.1038/9629.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adrenal Insufficiency / genetics*
  • Adrenal Insufficiency / pathology
  • Amino Acid Sequence
  • Amino Acid Substitution
  • Base Sequence
  • Codon / genetics
  • DNA-Binding Proteins / chemistry
  • DNA-Binding Proteins / genetics*
  • Disorders of Sex Development*
  • Exons
  • Female
  • Fushi Tarazu Transcription Factors
  • Homeodomain Proteins
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation*
  • Receptors, Cytoplasmic and Nuclear
  • Steroidogenic Factor 1
  • Testis / pathology
  • Transcription Factors / chemistry
  • Transcription Factors / genetics*
  • X Chromosome*
  • Y Chromosome*
  • Zinc Fingers

Substances

  • Codon
  • DNA-Binding Proteins
  • Fushi Tarazu Transcription Factors
  • Homeodomain Proteins
  • NR5A1 protein, human
  • Receptors, Cytoplasmic and Nuclear
  • Steroidogenic Factor 1
  • Transcription Factors