HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism

David E G McNay, James P Turton, Daniel Kelberman, Kathryn S Woods, Raja Brauner, Anastasios Papadimitriou, Eberhard Keller, Alexandra Keller, Nele Haufs, Heiko Krude, Stephen M Shalet, Mehul T Dattani

Research output: Contribution to journalArticlepeer-review

126 Citations (Scopus)


Mutations in the transcription factor HESX1 have previously been described in association with septooptic dysplasia (SOD) as well as isolated defects of the hypothalamic-pituitary axis.
Original languageEnglish
Pages (from-to)691-697
Number of pages7
JournalJournal of Clinical Endocrinology and Metabolism
Issue number2
Publication statusPublished - 2007


  • Adult
  • Animals
  • Base Sequence
  • CHO Cells
  • Cricetinae
  • Cricetulus
  • Female
  • Homeodomain Proteins
  • Humans
  • Hypopituitarism
  • Infant, Newborn
  • Male
  • Maternal Age
  • Molecular Sequence Data
  • Optic Nerve
  • Pedigree
  • Phenotype
  • Pituitary Gland
  • Point Mutation
  • Polymorphism, Single-Stranded Conformational
  • Septo-Optic Dysplasia


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