Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl

J Endocrinol Invest. 2007 Oct;30(9):806-7. doi: 10.1007/BF03350823.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adrenal Hyperplasia, Congenital / diagnosis
  • Adrenal Hyperplasia, Congenital / genetics*
  • Codon, Nonsense / genetics*
  • Female
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Phenotype
  • Steroid 21-Hydroxylase / genetics*

Substances

  • Codon, Nonsense
  • Steroid 21-Hydroxylase