MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female

Adv Exp Med Biol. 2011:707:129-31. doi: 10.1007/978-1-4419-8002-1_28.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • 46, XX Disorders of Sex Development / genetics*
  • DNA-Binding Proteins / genetics*
  • Female
  • Homozygote*
  • Humans
  • Mutation, Missense*
  • Nuclear Proteins / genetics*
  • Transcription Factors / genetics*
  • Virilism*

Substances

  • DNA-Binding Proteins
  • MAMLD1 protein, human
  • Nuclear Proteins
  • Transcription Factors