Endocrine Abstracts

Introduction: The Gli-family of zinc-finger transcription factors regulates the Sonic Hedgehog (Shh) signalling pathway, critical for normal CNS development. Gli2 is essential for early pituitary and ventral forebrain development in mice, with mutations described in humans with holoprosencephaly (HPE), isolated hypopituitarism (HP) and cranial/midline facial defects. SHH mutations have been associated with phenotypes including HPE but not HP, despite murine studi...