ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism

Clin Genet. 2004 Jun;65(6):503-5. doi: 10.1111/j.1399-0004.2004.00256.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Encephalocele / diagnosis*
  • Encephalocele / genetics*
  • Homeodomain Proteins / genetics*
  • Humans
  • Hypopituitarism / diagnosis*
  • Hypopituitarism / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics
  • Syndrome
  • Transcription Factors / genetics*

Substances

  • ARX protein, human
  • Homeodomain Proteins
  • Transcription Factors