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

Ejemplares similares

• Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene
  por: Al Rashdi, Ismail, et al.
  Publicado: (2011)
• Central hypoventilation with PHOX2B expansion mutation presenting in adulthood
  por: Barratt, S, et al.
  Publicado: (2007)
• Central hypoventilation with PHOX2B expansion mutation presenting in adulthood
  por: Barratt, Shaney, et al.
  Publicado: (2009)
• 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
  por: Ana Lucia Cuadros Gamboa, et al.
  Publicado: (2022-05-01)
• Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation
  por: Kasi, Ajay S., et al.
  Publicado: (2017)