Associated Papers
Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt-Oram syndrome.
Li X et al.
Heliyon, 2022
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
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.
McDermott DA et al.
Pediatric Research, 2005
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