Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia

J Med Genet. 2000 Dec;37(12):959-64. doi: 10.1136/jmg.37.12.959.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Female
  • Gene Deletion*
  • Genes, Homeobox*
  • Homeodomain Proteins / genetics*
  • Homozygote*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Osteochondrodysplasias / genetics*
  • Pedigree
  • Short Stature Homeobox Protein

Substances

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