Ontology highlight
ABSTRACT:
SUBMITTER: Zhao L
PROVIDER: S-EPMC3306593 | biostudies-literature | 2012 Mar
REPOSITORIES: biostudies-literature
Developmental cell 20120301 3
Septo-optic dysplasia (SOD) is a congenital brain anomaly that results in pituitary, optic nerve, and midline forebrain defects. The etiology of SOD is poorly understood, with the majority of cases being sporadic. In rare instances, SOD is caused by mutations in Sox2, Sox3, or Hesx1, but how this manifests in disease is not entirely certain. We demonstrate here that mouse embryos lacking Sonic hedgehog (Shh) in the prospective hypothalamus exhibit key features of SOD, including pituitary hypopla ...[more]