Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus

J Med Genet. 2003 Jan;40(1):42-4. doi: 10.1136/jmg.40.1.42.
No abstract available

Publication types

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

MeSH terms

  • Body Height / genetics*
  • Chromosomes, Human, Pair 5 / genetics
  • Embryonic Induction / genetics
  • Female
  • Genetic Heterogeneity
  • Genetic Markers / genetics*
  • Growth Disorders / genetics*
  • Hedgehog Proteins
  • Humans
  • Limb Deformities, Congenital / genetics*
  • Male
  • Mutation, Missense / genetics*
  • Pedigree
  • Syndrome
  • Trans-Activators / genetics*

Substances

  • Genetic Markers
  • Hedgehog Proteins
  • Trans-Activators