Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea

J Pediatr Gastroenterol Nutr. 2011 Jan;52(1):106-10. doi: 10.1097/MPG.0b013e3181f28d1a.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, Pair 7 / genetics*
  • Diarrhea / congenital
  • Diarrhea / drug therapy
  • Diarrhea / genetics
  • Female
  • Frameshift Mutation*
  • Genes
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Male
  • Metabolism, Inborn Errors / drug therapy
  • Metabolism, Inborn Errors / genetics
  • Mutation, Missense*
  • Parents
  • Potassium Chloride / therapeutic use
  • Sequence Analysis, DNA
  • Siblings
  • Sodium Chloride / therapeutic use
  • Spain

Substances

  • Sodium Chloride
  • Potassium Chloride

Supplementary concepts

  • Congenital chloride diarrhea