Associated Papers
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
The Cardiac TBX5 Interactome Reveals a Chromatin Remodeling Network Essential for Cardiac Septation.
Waldron L et al.
Developmental Cell, 2016
A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome.
Al-Qattan MM et al.
Saudi Medical Journal, 2015
Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications.
Al-Qattan MM et al.
Gene, 2015
Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot.
Baban A et al.
American Journal of Medical Genetics. Part A, 2014
Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.
Boogerd CJ et al.
Cardiovascular Research, 2010
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