Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene

J Pediatr Endocrinol Metab. 2003 Dec;16(9):1207-9. doi: 10.1515/jpem.2003.16.9.1207.
No abstract available

Publication types

  • Comment

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Animals
  • Bone Morphogenetic Proteins / genetics
  • Bone Morphogenetic Proteins / metabolism
  • Fibroblast Growth Factor 8
  • Fibroblast Growth Factors / genetics
  • Fibroblast Growth Factors / metabolism
  • Gene Expression / genetics*
  • Genetic Diseases, X-Linked / genetics*
  • Growth Hormone / deficiency
  • Growth Hormone / genetics
  • Humans
  • Hypopituitarism / genetics
  • Male
  • Mice
  • Mutation*
  • Phenotype*
  • Pituitary Gland, Anterior / abnormalities*
  • Pituitary Gland, Anterior / growth & development*
  • Pituitary Gland, Anterior / metabolism
  • Septo-Optic Dysplasia / genetics
  • Septo-Optic Dysplasia / pathology
  • Signal Transduction / physiology
  • Syndrome
  • Transcription Factors / genetics
  • Transcription Factors / metabolism

Substances

  • Bone Morphogenetic Proteins
  • FGF8 protein, human
  • Fgf8 protein, mouse
  • Transcription Factors
  • Fibroblast Growth Factor 8
  • Fibroblast Growth Factors
  • Growth Hormone