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 recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.
Ritelli M et al.
Clinical Genetics, 2018
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Wade EM et al.
American Journal of Medical Genetics. Part A, 2017
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Wade EM et al.
American Journal of Human Genetics, 2016
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