Atypical presentation and novel star protein gene mutation in a 46,XY female with lipoid congenital adrenal hyperplasia

Adv Exp Med Biol. 2011:707:133-4. doi: 10.1007/978-1-4419-8002-1_29.
No abstract available

MeSH terms

  • Adrenal Hyperplasia, Congenital / genetics*
  • Disorder of Sex Development, 46,XY / genetics*
  • Female
  • Humans
  • Mutation*
  • Phosphoproteins / genetics*

Substances

  • Phosphoproteins
  • steroidogenic acute regulatory protein