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

Eitemau Tebyg

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