Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification

Rheumatology (Oxford). 2012 Oct;51(10):1919-21. doi: 10.1093/rheumatology/kes089. Epub 2012 Apr 26.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Familial Hypophosphatemic Rickets / genetics*
  • Familial Hypophosphatemic Rickets / pathology
  • Female
  • Humans
  • Ligaments / pathology*
  • Ossification, Heterotopic / genetics*
  • Ossification, Heterotopic / pathology
  • Phosphoric Diester Hydrolases / genetics*
  • Pyrophosphatases / genetics*

Substances

  • Phosphoric Diester Hydrolases
  • ectonucleotide pyrophosphatase phosphodiesterase 1
  • Pyrophosphatases