Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene

Am J Med Genet A. 2012 May;158A(5):1225-8. doi: 10.1002/ajmg.a.35295. Epub 2012 Apr 11.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Diseases, Developmental / genetics
  • Child, Preschool
  • Craniofacial Abnormalities / genetics
  • Homozygote
  • Humans
  • Male
  • Mucolipidoses / genetics*
  • Mutation, Missense*
  • Transferases (Other Substituted Phosphate Groups) / genetics*

Substances

  • Transferases (Other Substituted Phosphate Groups)
  • GNPTAB protein, human