SHOX point mutations and deletions in Leri-Weill dyschondrosteosis

J Med Genet. 2002 Jun;39(6):E33. doi: 10.1136/jmg.39.6.e33.
No abstract available

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Gene Deletion*
  • Homeodomain Proteins / genetics*
  • Humans
  • Infant
  • Italy
  • Male
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / genetics*
  • Point Mutation*
  • Short Stature Homeobox Protein

Substances

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