X-linked hypophosphatemia (XLH): Mutations compromising PHEX structure reflect a severe phenotype

Geahča maid

• Mutational analysis of PHEX gene in X-linked hypophosphatemia.
  Dahkki: Dixon, P, et al.
  Almmustuhtton: (1998)
• X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene.
  Dahkki: Christie, P, et al.
  Almmustuhtton: (2001)
• Expression and cloning of the human X-linked hypophosphatemia gene cDNA.
  Dahkki: Grieff, M, et al.
  Almmustuhtton: (1997)
• P251: XLH molecular diagnoses and the PHEX gene variant landscape: Sponsored hypophosphatemia gene panel testing findings from 2019 vs 2022
  Dahkki: Nicole Miller, et al.
  Almmustuhtton: (2023-01-01)
• X-linked hypophosphataemic rickets due to pseudo-exons of the PHEX gene.
  Dahkki: Christie, P, et al.
  Almmustuhtton: (2000)