GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis

Scand J Rheumatol. 2015;44(2):170-2. doi: 10.3109/03009742.2014.958100. Epub 2014 Oct 29.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Calcinosis / diagnosis
  • Calcinosis / genetics*
  • Child
  • Humans
  • Hyperostosis, Cortical, Congenital / diagnosis
  • Hyperostosis, Cortical, Congenital / genetics*
  • Hyperphosphatemia / diagnosis
  • Hyperphosphatemia / genetics*
  • Male
  • Mutation
  • N-Acetylgalactosaminyltransferases / genetics*
  • Osteomyelitis / diagnosis
  • Osteomyelitis / genetics*
  • Polypeptide N-acetylgalactosaminyltransferase
  • Tomography, Emission-Computed, Single-Photon

Substances

  • N-Acetylgalactosaminyltransferases

Supplementary concepts

  • Chronic recurrent multifocal osteomyelitis
  • Tumoral Calcinosis, Hyperphosphatemic, Familial