Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.

@article{Bae2011MutationsIC,
  title={Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.},
  author={Gyu-un Bae and Sabina Domen{\'e} and Erich Roessler and Karen A Schachter and J S Kang and Maximilian Muenke and Robert S Krauss},
  journal={American journal of human genetics},
  year={2011},
  volume={89 2},
  pages={231-40}
}
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… CONTINUE READING