Salt depletion syndrome as the initial presentation of cystic fibrosis in a toddler with the rare p.Ala309Gly (A309G) CFTR variant

Clin Genet. 2016 Aug;90(2):186-7. doi: 10.1111/cge.12733. Epub 2016 Feb 9.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Humans
  • Infant
  • Mutation
  • Sodium Chloride / metabolism
  • Syndrome

Substances

  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Sodium Chloride