Detection of a large TBX5 deletion in a family with Holt-Oram syndrome

J Med Genet. 2001 Dec;38(12):E44. doi: 10.1136/jmg.38.12.e44.
No abstract available

Publication types

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

MeSH terms

  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Genes, Dominant / genetics
  • Genetic Testing
  • Heart Defects, Congenital / genetics*
  • Humans
  • Limb Deformities, Congenital / genetics*
  • Male
  • Pedigree
  • Sequence Deletion / genetics*
  • Syndrome
  • T-Box Domain Proteins / genetics*

Substances

  • T-Box Domain Proteins
  • T-box transcription factor 5