Associated Papers
Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum.
Xu W et al.
Human Molecular Genetics, 2023
TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.
Hanson J et al.
Clinical Genetics, 2022
A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia.
Hori A et al.
Human Genome Variation, 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
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
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Wade EM et al.
American Journal of Medical Genetics. Part A, 2017
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