Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia

Am J Med Genet A. 2008 Feb 1;146A(3):389-92. doi: 10.1002/ajmg.a.32119.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution / genetics
  • Bone Diseases, Developmental / diagnostic imaging
  • Bone Diseases, Developmental / genetics*
  • Glycosylation
  • Humans
  • Infant, Newborn
  • Metabolism, Inborn Errors / diagnostic imaging
  • Metabolism, Inborn Errors / genetics*
  • Phosphotransferases (Phosphomutases) / genetics
  • Radiography

Substances

  • Phosphotransferases (Phosphomutases)
  • phosphomannomutase 2, human