A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome

Osteoporos Int. 2007 Jul;18(7):1017-8. doi: 10.1007/s00198-007-0360-x. Epub 2007 Apr 17.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child
  • Eye Abnormalities / genetics
  • Glioma / genetics*
  • Humans
  • LDL-Receptor Related Proteins / genetics*
  • Low Density Lipoprotein Receptor-Related Protein-5
  • Male
  • Mutation, Missense
  • Osteoporosis / genetics*
  • Syndrome*

Substances

  • LDL-Receptor Related Proteins
  • LRP5 protein, human
  • Low Density Lipoprotein Receptor-Related Protein-5