Exon skipping and severe childhood-onset obesity caused by a leptin receptor mutation

Am J Med Genet A. 2013 Oct;161A(10):2672-4. doi: 10.1002/ajmg.a.36125. Epub 2013 Aug 15.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Age of Onset
  • Alternative Splicing*
  • Child
  • Child, Preschool
  • Consanguinity
  • DNA Mutational Analysis
  • Exons*
  • Female
  • Humans
  • Male
  • Mutation*
  • Obesity / genetics*
  • RNA Splice Sites
  • Receptors, Leptin / genetics*

Substances

  • RNA Splice Sites
  • Receptors, Leptin