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Use of ultra-rapid whole-exome sequencing to diagnose congenital central hypoventilation syndrome.

Shivanthan ShanthikumarAjay C KevatRachel StapletonSebastian LunkeZornitza StarkMoya Vandeleur
Published in: Pediatric pulmonology (2020)
Keyphrases
  • high resolution
  • positive airway pressure
  • case report
  • loop mediated isothermal amplification
  • obstructive sleep apnea
  • mass spectrometry
  • sleep apnea