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Novel PHOX2B mutations in congenital central hypoventilation syndrome.

Ayako SasakiYumiko KishikawaReisuke ImajiYu FukushimaYukiko NakamuraYutaka NishimuraMegumi YamadaYoichi MinoTetsuo MitsuiKiyoshi Hayasaka
Published in: Pediatrics international : official journal of the Japan Pediatric Society (2019)
Most patients carrying NPARM had severe symptoms with frequent complications, as in previous reports, and should be carefully monitored for various complications, including neural crest-derived tumor.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • risk factors
  • chronic kidney disease
  • prognostic factors
  • peritoneal dialysis
  • emergency department
  • early onset
  • obstructive sleep apnea
  • sleep quality