Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea

Clin Dysmorphol. 2010 Jan;19(1):48. doi: 10.1097/MCD.0b013e328331de38.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Choanal Atresia / diagnosis
  • Cornea / abnormalities
  • DNA Mutational Analysis
  • Diarrhea / congenital*
  • Diarrhea / genetics*
  • Epithelium / pathology
  • Hair / abnormalities
  • Humans
  • Intestinal Diseases / diagnosis*
  • Intestinal Diseases / genetics*
  • Malabsorption Syndromes / diagnosis*
  • Malabsorption Syndromes / genetics*
  • Male
  • Membrane Glycoproteins / genetics*
  • Syndrome

Substances

  • Membrane Glycoproteins
  • SPINT2 protein, human