Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13

J Med Genet. 2002 Nov;39(11):852-6. doi: 10.1136/jmg.39.11.852.
No abstract available

Publication types

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

MeSH terms

  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Fingers / abnormalities
  • Heterozygote
  • Homeodomain Proteins / genetics*
  • Humans
  • Limb Deformities, Congenital / genetics*
  • Male
  • Mutation, Missense
  • Pedigree
  • Peptides / genetics
  • Polydactyly / genetics
  • Syndactyly / genetics
  • Toes / abnormalities
  • Transcription Factors*
  • Trinucleotide Repeat Expansion / genetics*

Substances

  • HOXD13 protein, human
  • Homeodomain Proteins
  • Peptides
  • Transcription Factors
  • homeobox protein HOXA13
  • polyalanine
  • DNA

Associated data

  • OMIM/140000
  • OMIM/176305
  • OMIM/186000