In humans and some other animals, defects in the TBX5 gene expression can lead to finger-like thumbs and ventricular septal defects in which there is no separation between the left and right ventricle of the heart and are responsible for Holt-Oram syndrome.
Genes encoding T-box proteins include:
- Meisler (1997). "Mutation watch: Mouse brachyury (T), the T-box gene family, and human disease." (PDF).
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