Application of Whole Exome Sequencing in Congenital Secretory Diarrhea Diagnosis

J Pediatr Gastroenterol Nutr. 2019 Jun;68(6):e106-e108. doi: 10.1097/MPG.0000000000002258.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Diagnosis, Differential
  • Diarrhea / congenital*
  • Diarrhea / diagnosis
  • Diarrhea / genetics
  • Exome Sequencing / methods*
  • Female
  • Humans
  • Infant, Newborn
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / genetics
  • Mutation
  • Sodium-Hydrogen Exchanger 3 / genetics

Substances

  • SLC9A3 protein, human
  • Sodium-Hydrogen Exchanger 3

Supplementary concepts

  • Diarrhea 3, Secretory Sodium, Congenital