Associated Papers
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.
Engwerda A et al.
European Journal of Human Genetics : Ejhg, 2021
A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family.
Chen J et al.
Bmc Cardiovascular Disorders, 2020
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.
Morlino S et al.
Human Mutation, 2019
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.
Ritelli M et al.
Clinical Genetics, 2018
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