The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism.

@article{Gregory2015TheRO,
  title={The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism.},
  author={Louise Cheryl Gregory and Carles Gaston-Massuet and Cynthia Lilian Andoniadou and Gabriela Carreno and Emma Alice Webb and Daniel Kelberman and Mark James McCabe and Leonidas Panagiotakopoulos and Jos{\'e} W. Saldanha and Helen Alexandra Spoudeas and John Torpiano and Maurizio Rossi and Jason Raine and Natalie L E Canham and Juan Pedro Martinez-Barbera and Mehul T Dattani},
  journal={Clinical endocrinology},
  year={2015},
  volume={82 5},
  pages={728-38}
}
INTRODUCTION The Gli family of zinc finger (GLI) transcription factors mediates the sonic hedgehog signalling pathway (HH) essential for CNS, early pituitary and ventral forebrain development in mice. Human mutations in this pathway have been described in patients with holoprosencephaly (HPE), isolated congenital hypopituitarism (CH) and cranial/midline facial abnormalities. Mutations in Sonic hedgehog (SHH) have been associated with HPE but not CH, despite murine studies indicating involvement… CONTINUE READING
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