SHOX point mutations in dyschondrosteosis

J Med Genet. 2001 May;38(5):323. doi: 10.1136/jmg.38.5.323.
No abstract available

Publication types

  • Letter

MeSH terms

  • Body Height / genetics
  • Codon, Nonsense / genetics
  • DNA Mutational Analysis
  • Exons / genetics
  • Frameshift Mutation / genetics
  • Homeodomain Proteins / genetics*
  • Humans
  • Limb Deformities, Congenital / genetics*
  • Microsatellite Repeats / genetics
  • Point Mutation / genetics*
  • Sequence Deletion / genetics
  • Short Stature Homeobox Protein

Substances

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