[X-linked hypophosphatemic rickets due to mutations in PHEX: Clinical and evolutionary variability]

An Pediatr (Barc). 2016 Jul;85(1):41-3. doi: 10.1016/j.anpedi.2016.04.012. Epub 2016 May 21.
[Article in Spanish]
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child, Preschool
  • Familial Hypophosphatemic Rickets / genetics*
  • Familial Hypophosphatemic Rickets / therapy
  • Female
  • Humans
  • Infant
  • Mutation*
  • PHEX Phosphate Regulating Neutral Endopeptidase / genetics*
  • Phenotype

Substances

  • PHEX Phosphate Regulating Neutral Endopeptidase
  • PHEX protein, human