Associated Papers
Expanding the phenotype of TAB2 variants and literature review.
Woods E et al.
American Journal of Medical Genetics. Part A, 2022
TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.
Hanson J et al.
Clinical Genetics, 2022
6q25.1 (TAB2) microdeletion is a risk factor for hypoplastic left heart: a case report that expands the phenotype.
Cheng A et al.
Bmc Cardiovascular Disorders, 2020
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
6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy.
Cheng A 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
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