Growth hormone insensitivity associated with a STAT5b mutation

N Engl J Med. 2003 Sep 18;349(12):1139-47. doi: 10.1056/NEJMoa022926.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Carrier Proteins / blood
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Female
  • Growth Disorders / drug therapy
  • Growth Disorders / genetics*
  • Homozygote
  • Human Growth Hormone / blood
  • Human Growth Hormone / physiology
  • Human Growth Hormone / therapeutic use*
  • Humans
  • Insulin-Like Growth Factor Binding Protein 3 / blood
  • Insulin-Like Growth Factor I / analysis
  • Insulin-Like Growth Factor I / deficiency*
  • Milk Proteins*
  • Mutation, Missense*
  • Receptors, Somatotropin / genetics
  • STAT5 Transcription Factor
  • Sequence Analysis, DNA
  • Signal Transduction
  • Trans-Activators / genetics*
  • Trans-Activators / metabolism

Substances

  • Carrier Proteins
  • DNA-Binding Proteins
  • Insulin-Like Growth Factor Binding Protein 3
  • Milk Proteins
  • Receptors, Somatotropin
  • STAT5 Transcription Factor
  • STAT5B protein, human
  • Trans-Activators
  • Human Growth Hormone
  • Insulin-Like Growth Factor I
  • somatotropin-binding protein