PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.

@article{Trochet2005PHOX2BGA,
  title={PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.},
  author={Delphine Trochet and Louise M. O'Brien and David Gozal and Ha Diem Trang and Agneta Nordenskj{\"o}ld and B{\'e}atrice Laudier and P Svensson and Sabine Uhrig and Trevor Cole and Stephan Niemann and Arnold Munnich and Claude Gaultier and Stanislas Lyonnet and Jeanne Amiel},
  journal={American journal of human genetics},
  year={2005},
  volume={76 3},
  pages={421-6}
}
The Phox2b gene is necessary for autonomic nervous-system development. Phox2b-/- mice die in utero with absent autonomic nervous system circuits, since autonomic nervous system neurons either fail to form or degenerate. We first identified the Phox2b human ortholog, PHOX2B, as the gene underlying congenital central hypoventilation syndrome (CCHS, or Ondine curse), with an autosomal dominant mode of inheritance and de novo mutation at the first generation. We have subsequently shown that… CONTINUE READING
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