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 journalArticle

95 Citations (Scopus)

Abstract

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
Volume92
Issue number2
DOIs
Publication statusPublished - 2007

Fingerprint

Septo-Optic Dysplasia
Transcription Factors
Defects
Mutation
Hypopituitarism and septooptic 'dysplasia'

Keywords

  • 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

Cite this

McNay, D. E. G., Turton, J. P., Kelberman, D., Woods, K. S., Brauner, R., Papadimitriou, A., ... Dattani, M. T. (2007). HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. Journal of Clinical Endocrinology and Metabolism, 92(2), 691-697. https://doi.org/10.1210/jc.2006-1609

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. / McNay, David E G; Turton, James P; Kelberman, Daniel; Woods, Kathryn S; Brauner, Raja; Papadimitriou, Anastasios; Keller, Eberhard; Keller, Alexandra; Haufs, Nele; Krude, Heiko; Shalet, Stephen M; Dattani, Mehul T.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 92, No. 2, 2007, p. 691-697.

Research output: Contribution to journalArticle

McNay, DEG, Turton, JP, Kelberman, D, Woods, KS, Brauner, R, Papadimitriou, A, Keller, E, Keller, A, Haufs, N, Krude, H, Shalet, SM & Dattani, MT 2007, 'HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism', Journal of Clinical Endocrinology and Metabolism, vol. 92, no. 2, pp. 691-697. https://doi.org/10.1210/jc.2006-1609
McNay, David E G ; Turton, James P ; Kelberman, Daniel ; Woods, Kathryn S ; Brauner, Raja ; Papadimitriou, Anastasios ; Keller, Eberhard ; Keller, Alexandra ; Haufs, Nele ; Krude, Heiko ; Shalet, Stephen M ; Dattani, Mehul T. / HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. In: Journal of Clinical Endocrinology and Metabolism. 2007 ; Vol. 92, No. 2. pp. 691-697.
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AU - Papadimitriou, Anastasios

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