Associated Papers
Functional analysis of two novel TBX5 variants present in individuals with Holt-Oram syndrome with different clinical manifestations.
Varela D et al.
Molecular Genetics and Genomics : Mgg, 2021
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
Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome.
Heinritz W et al.
Heart (british Cardiac Society), 2005
Molecular genetic and ocular findings in patients with holt-oram syndrome.
Gruenauer-Kloevekorn C et al.
Ophthalmic Genetics, 2005
Opposite imbalances of distal 14q in two unrelated patients.
Rivera H et al.
Annales De Genetique, 1992
Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families.
Gruenauer-Kloevekorn C et al.
Annales De Genetique, 0
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