Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family

J Med Genet. 2003 Feb;40(2):132-5. doi: 10.1136/jmg.40.2.132.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Base Sequence
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2 / genetics*
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Fingers / abnormalities*
  • Genetic Linkage
  • Hand Deformities, Congenital / genetics*
  • Hand Deformities, Congenital / pathology
  • Hedgehog Proteins
  • Humans
  • Male
  • Microsatellite Repeats
  • Mutation
  • Pedigree
  • Trans-Activators / genetics*

Substances

  • Hedgehog Proteins
  • Trans-Activators
  • DNA

Associated data

  • OMIM/112500