Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation

Lignende værker

• Adult With PHOX2B Mutation and Late-Onset Congenital Central Hypoventilation Syndrome
  af: Kasi, Ajay S., et al.
  Udgivet: (2018)
• Congenital central hypoventilation syndrome: diagnostic and management challenges
  af: Kasi, Ajay S, et al.
  Udgivet: (2016)
• The genetics of congenital central hypoventilation syndrome: clinical implications
  af: Bishara, John, et al.
  Udgivet: (2018)
• Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene
  af: Al Rashdi, Ismail, et al.
  Udgivet: (2011)
• Recurrent apnoea and respiratory failure in an infant: congenital central hypoventilation syndrome with a novel PHOX2B gene variant
  af: Anand, Neesha, et al.
  Udgivet: (2021)