Holt-Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene

Am J Med Genet A. 2007 May 1;143A(9):1012-4. doi: 10.1002/ajmg.a.31672.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Humans
  • Infant, Newborn
  • Lung / abnormalities*
  • Male
  • Mutation*
  • Respiratory Distress Syndrome, Newborn / genetics
  • Syndrome
  • T-Box Domain Proteins / genetics*

Substances

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