Article
Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.
American journal of human genetics - 12 Aug 2011
Bae Gyu-Un, Domené Sabina, Roessler Erich, Schachter Karen, Kang Jong-Sun, Muenke Maximilian, Krauss Robert S
Abstract excerpt
Holoprosencephaly (HPE), a common human congenital anomaly defined by a failure to delineate the midline of the forebrain and/or midface, is associated with diminished Sonic hedgehog (SHH)-pathway activity in development of these structures. SHH signaling is regulated by a network of ligand-binding factors, including the primary receptor PTCH1 and the putative coreceptors, CDON (also called CDO), BOC, and GAS1....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.