Pediatric Disorders with Autonomic Dysfunction: What Role for PHOX2B?

@article{Gaultier2005PediatricDW,
  title={Pediatric Disorders with Autonomic Dysfunction: What Role for PHOX2B?},
  author={Claude Gaultier and Ha Diem Trang and St{\'e}phane Dauger and Jorge Gallego},
  journal={Pediatric Research},
  year={2005},
  volume={58},
  pages={1-6}
}
Hirschsprung disease, neuroblastomas, and congenital central hypoventilation syndrome can occur in combination, and familial cases have been reported in all three conditions. This suggests variable expression of a single genetic abnormality as the common cause to these neural crest disorders. Because the PHOX2B gene is pivotal in the development of most relays of the autonomic nervous system, including all autonomic neural crest derivatives, it was considered a candidate gene for the above… CONTINUE READING

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