Associated Papers
TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.
Hanson J et al.
Clinical Genetics, 2022
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.
Morlino S et al.
Human Mutation, 2019
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.
Morlino S et al.
European Journal of Human Genetics : Ejhg, 2018
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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