An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.

@article{WeeseMayer2010AnOA,
  title={An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.},
  author={Debra Ellyn Weese-Mayer and Elizabeth M. Berry-Kravis and Isabella Ceccherini and Thomas G. Keens and Darius A. Loghmanee and Ha Diem Trang},
  journal={American journal of respiratory and critical care medicine},
  year={2010},
  volume={181 6},
  pages={626-44}
}
BACKGROUND Congenital central hypoventilation syndrome (CCHS) is characterized by alveolar hypoventilation and autonomic dysregulation. PURPOSE (1) To demonstrate the importance of PHOX2B testing in diagnosing and treating patients with CCHS, (2) to summarize recent advances in understanding how mutations in the PHOX2B gene lead to the CCHS phenotype, and (3) to provide an update on recommendations for diagnosis and treatment of patients with CCHS. METHODS Committee members were invited on… CONTINUE READING
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