Humpath.com - Human pathology

Home > D. General pathology > Genetic and developmental anomalies > Holt-Oram syndrome

Holt-Oram syndrome

Wednesday 24 September 2003

Etiology

- Mutations in TBX5, a T-box-containing transcription factor, cause cardiac and limb malformations in individuals with Holt-Oram syndrome (HOS).

References

- Packham EA, David Brook J. Interaction makes the heart grow stronger. Trends Mol Med. 2003 Oct;9(10):407-9. PMID: 14557051