Associated Papers
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis.
Yamoto K et al.
Congenital Anomalies, 2024
TBX5 R264K acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway.
Miyao N et al.
Plos One, 2020
A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function.
Dreßen M et al.
Molecular Genetics & Genomic Medicine, 2016
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