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.
MeSH terms
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Hedgehog Proteins / metabolism
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Humans
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Hypopituitarism / genetics*
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Hypopituitarism / metabolism*
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Kruppel-Like Transcription Factors / genetics*
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Kruppel-Like Transcription Factors / metabolism*
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Nuclear Proteins / genetics*
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Nuclear Proteins / metabolism*
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Signal Transduction / physiology*
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Zinc Finger Protein Gli2
Substances
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GLI2 protein, human
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Hedgehog Proteins
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Kruppel-Like Transcription Factors
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Nuclear Proteins
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SHH protein, human
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Zinc Finger Protein Gli2