There is more to it than just congenital heart defects – The phenotypic spectrum of TAB2-related syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference21 articles.
1. 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;Congenit Heart Dis.,2016
2. De novo variants in neurodevelopmental disorders-experiences from a tertiary care center;Brunet;Clin. Genet.,2021
3. Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family;Caulfield;Mol. Genet. Genomic Med.,2018
4. A novel TAB2 nonsense mutation (p. S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family;Chen;BMC Cardiovasc. Disord.,2020
5. 6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy;Cheng;Am. J. Med. Genet. A.,2017
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Growth restriction and congenital heart disease caused by a novel TAB2 mutation: A case report;Experimental and Therapeutic Medicine;2023-04-18
2. Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum;Human Molecular Genetics;2022-10-14
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