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 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
Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome.
Ackerman JP et al.
Congenital Heart Disease, 2016
Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot.
Weiss K et al.
American Journal of Medical Genetics. Part A, 2015
Haploinsufficiency of TAB2 causes congenital heart defects in humans.
Thienpont B et al.
American Journal of Human Genetics, 2010
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