Article
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
Proceedings of the National Academy of Sciences of the United States of America - 11 Nov 2003
Roessler Erich, Du Yang-Zhu, Mullor Jose L, Casas Esther, Allen William P, Gillessen-Kaesbach Gabriele, Roeder Elizabeth R, Ming Jeffrey E, Ruiz i Altaba Ariel, Muenke Maximilian
Abstract excerpt
Diminished Sonic Hedgehog (Shh) signaling is associated with the most common forebrain defect in humans, holoprosencephaly (HPE), which includes cyclopia, a phenotype also seen in mice and other vertebrates with defective Shh signaling. The secreted protein Shh acts as a crucial factor that patterns the ventral forebrain and is required for the division of the primordial eye field and brain into two discrete...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.