The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia

Clin Genet. 2007 Nov;72(5):490-1. doi: 10.1111/j.1399-0004.2007.00875.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • 3' Flanking Region*
  • Abortion, Eugenic
  • Consanguinity
  • Dwarfism / genetics*
  • Enhancer Elements, Genetic*
  • Female
  • Gene Deletion*
  • Homeodomain Proteins / genetics*
  • Homozygote*
  • Humans
  • Male
  • Pedigree
  • Pregnancy
  • Short Stature Homeobox Protein

Substances

  • Homeodomain Proteins
  • SHOX protein, human
  • Short Stature Homeobox Protein