title: GLI2 mutations as a cause of hypopituitarism.
abstract: 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.
authors.affiliation: Boston Children's Hospital Division of Endocrinology, 300 Longwood Avenue, Boston, MA 02115, USA. laurie.cohen@childrens.harvard.edu
authors.forename: Laurie E
authors.initials: LE
authors.lastname: Cohen
mesh_terms: D053823:Hedgehog Proteins / Q000378:metabolism; D006801:Humans; D007018:Hypopituitarism / Q000235:genetics* / Q000378:metabolism*; D051741:Kruppel-Like Transcription Factors / Q000235:genetics* / Q000378:metabolism*; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism*; D015398:Signal Transduction / Q000502:physiology*; D000075746:Zinc Finger Protein Gli2
chemical_list: C082593:GLI2 protein, human; D053823:Hedgehog Proteins; D051741:Kruppel-Like Transcription Factors; D009687:Nuclear Proteins; C509239:SHH protein, human; D000075746:Zinc Finger Protein Gli2