A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndrome.

@article{Parodi2008ANM,
  title={A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndrome.},
  author={Sara Parodi and Maria Pia Baglietto and Alessio Pini Prato and Francesco Caroli and Alberto Garaventa and Isabella Ceccherini and Giancarlo Ottonello},
  journal={Pediatric pulmonology},
  year={2008},
  volume={43 10},
  pages={1036-9}
}
We report the case of a 15-month-old male suffering from Late Onset Congenital Central Hypoventilation Syndrome and recto-sigmoid Hirschsprung's disease, an association that has not been reported thus far. Nevertheless, our patient showed a missense mutation of the PHOX2B gene already known in isolated late onset central hypoventilation, resulting in a substitution of the Ala140 residue with a Glu residue (p.A140E). The present association of LO-CHS and HSCR in a patient harboring a rare and… CONTINUE READING

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