Obesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1

Am J Med Genet A. 2011 Jun;155A(6):1483-6. doi: 10.1002/ajmg.a.33989. Epub 2011 May 12.
No abstract available

MeSH terms

  • Body Mass Index
  • Cathepsin K / genetics
  • Child
  • Chromosomes, Human, Pair 1 / genetics*
  • Female
  • Genomic Imprinting / genetics*
  • Genotype
  • Humans
  • Microsatellite Repeats / genetics
  • Obesity / genetics*
  • Obesity / pathology
  • Pedigree
  • Pycnodysostosis / genetics*
  • Uniparental Disomy / genetics*

Substances

  • CTSK protein, human
  • Cathepsin K