Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene

Gelijkaardige items

• PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome
  door: Matera, I, et al.
  Gepubliceerd in: (2004)
• Adult With PHOX2B Mutation and Late-Onset Congenital Central Hypoventilation Syndrome
  door: Kasi, Ajay S., et al.
  Gepubliceerd in: (2018)
• Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation
  door: Kasi, Ajay S., et al.
  Gepubliceerd in: (2017)
• Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene
  door: Ana Lucia Cuadros Gamboa, et al.
  Gepubliceerd in: (2022-05-01)
• Atypical presentations associated with non-polyalanine repeat PHOX2B mutations
  door: Katwa, Umakanth, et al.
  Gepubliceerd in: (2018)