Salt wasting phenotype in a compound heterozygous girl with P482S mutation associated with anovel mutation of CYP21 gene (Q481P)

J Endocrinol Invest. 2005 Dec;28(11):1038-9. doi: 10.1007/BF03345346.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adrenal Hyperplasia, Congenital / enzymology
  • Adrenal Hyperplasia, Congenital / genetics*
  • Female
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Mutation / genetics*
  • Phenotype
  • Sodium Chloride / metabolism
  • Steroid 21-Hydroxylase / genetics*

Substances

  • Sodium Chloride
  • Steroid 21-Hydroxylase