Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease

• Main Authors: Maria Giovanna Paglietti (Author), Claudio Cherchi (Author), Federica Porcaro (Author), Emanuele Agolini (Author), Alessandra Schiavino (Author), Francesca Petreschi (Author), Antonio Novelli (Author), Renato Cutrera (Author)
• Format: Book
• Published: BMC, 2019-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Congenital central hypoventilation syndrome (CCHS) is characterized by alveolar hypoventilation increasing during sleep and affected patients are unable to perceive and respond to hypercarbia with increased ventilation and arousal during sleep. PHOX2B gene mutations are considere...