Contiguous gene deletion of TBX5 and TBX3: report of another case

Clin Dysmorphol. 2018 Jan;27(1):6-8. doi: 10.1097/MCD.0000000000000199.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child
  • Female
  • Gene Deletion
  • Heart Defects, Congenital / genetics
  • Heart Septal Defects, Atrial / genetics
  • Humans
  • Lower Extremity Deformities, Congenital / genetics
  • T-Box Domain Proteins / genetics*
  • T-Box Domain Proteins / metabolism
  • Upper Extremity Deformities, Congenital / genetics

Substances

  • T-Box Domain Proteins
  • T-box transcription factor 5
  • TBX3 protein, human

Supplementary concepts

  • Holt-Oram syndrome