A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth

Am J Med Genet A. 2007 Dec 1;143A(23):2835-7. doi: 10.1002/ajmg.a.32051.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Bone Diseases, Metabolic / genetics*
  • Fractures, Bone / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Mutation*
  • Syndrome
  • Vesicular Transport Proteins / genetics*

Substances

  • VPS33B protein, human
  • Vesicular Transport Proteins