Associated Papers
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.
Vanlerberghe C et al.
European Journal of Human Genetics : Ejhg, 2019
Novel exons in the tbx5 gene locus generate protein isoforms with distinct expression domains and function.
Yamak A et al.
The Journal of Biological Chemistry, 2015
Exome sequencing identifies a c.148-1G>C mutation of TBX5 in a Holt-Oram family with unusual genotype-phenotype correlations.
Guo Q et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2015
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