A non-pathogenic pseudoautosomal region 1 copy number variant downstream of SHOX

Am J Med Genet A. 2011 Apr;155A(4):935-7. doi: 10.1002/ajmg.a.33872. Epub 2011 Mar 17.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • Chromosomes, Human, X / genetics*
  • DNA Copy Number Variations / genetics*
  • Growth Disorders / diagnosis
  • Growth Disorders / genetics
  • Homeodomain Proteins / genetics*
  • Humans
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / genetics
  • Short Stature Homeobox Protein

Substances

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

Supplementary concepts

  • Leri-Weil syndrome