GLI2 mutations as a cause of hypopituitarism

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


The sonic hedgehog (Shh) signaling pathway is important in pituitary and craniofacial development. Gli2 is a transcription factor that mediates Shh signaling. Mutations in GLI2 have been found in association with holoprosencephaly (HPE) and HPE-like phenotype, with and without pituitary hormone deficiencies; as well as in patients with pituitary dysfunction with and without HPE craniofacial features. Polydactyly is a common associated finding.

Original languageEnglish (US)
Pages (from-to)706-709
Number of pages4
JournalPediatric Endocrinology Reviews
Issue number4
StatePublished - Aug 2012
Externally publishedYes


  • GLI2
  • Holoprosencephaly
  • Hypopituitarism
  • Sonic hedgehog

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism


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