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

Lignende værker

• How the Management of Children With Congenital Central Hypoventilation Syndrome Has Changed Over Time: Two Decades of Experience From an Italian Center
  af: Porcaro, Federica, et al.
  Udgivet: (2021)
• Pleural effusion from intrathoracic migration of a ventriculo-peritoneal shunt catheter: pediatric case report and review of the literature
  af: Porcaro, Federica, et al.
  Udgivet: (2018)
• Anaphylactic shock with methylprednisolone sodium succinate in a child with short bowel syndrome and cow’s milk allergy
  af: Porcaro, Federica, et al.
  Udgivet: (2017)
• Congenital central hypoventilation syndrome and Hirschsprung's disease
  af: Croaker, G, et al.
  Udgivet: (1998)
• Congenital central hypoventilation syndrome with hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant
  af: Aytekin Kaymakçi, et al.
  Udgivet: (2012-10-01)