6q25.1 (TAB2 ) microdeletion syndrome: Congenital heart defects and cardiomyopathy-Reference-Cited by-同舟云学术

6q25.1 (TAB2 ) microdeletion syndrome: Congenital heart defects and cardiomyopathy

Published:2017-05-02 Issue:7 Volume:173 Page:1848-1857
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Cheng Andrew¹,Dinulos Mary Beth P.²,Neufeld-Kaiser Whitney³,Rosenfeld Jill⁴,Kyriss McKenna⁵,Madan-Khetarpal Suneeta⁶,Risheg Hiba⁷,Byers Peter H.³,Liu Yajuan J.³^ORCID

Affiliation:

1. Department of Cardiology; University of Washington School of Medicine; Seattle Washington

2. Departments of Pediatrics and Pathology; Section of Medical Genetics; Dartmouth-Hitchcock Medical Center; One Medical Center Drive; Lebanon New Hampshire

3. Department of Pathology; University of Washington School of Medicine; Seattle Washington

4. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

5. Prevention Genetics; Marshfield Wisconsin

6. Department of Medical Genetics; Children's Hospital of Pittsburgh; Pittsburgh Pennsylvania

7. Laboratory Corporation of America/Dynacare; Seattle Washington

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38254/fullpdf

Reference26 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;Congenital Heart Disease,2016

2. Genetics of hypoplastic left heart syndrome;Benson;Journal of Pediatrics,2016

3. Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features;Bisgaard;American Journal of Medical Genetics Part A,2006

4. Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects;Breckpot;Journal of Pediatrics,2010

5. A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears;Caselli;European Journal of Medical Genetics,2007

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1. Myxomatous degeneration of cardiac valves in a fetus with 6q25.1 (TAB2) deletion;Cardiology in the Young;2024-01-03

2. Growth restriction and congenital heart disease caused by a novel TAB2 mutation: A case report;Experimental and Therapeutic Medicine;2023-04-18

3. Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum;Human Molecular Genetics;2022-10-14

4. Considering the Genetic Architecture of Hypoplastic Left Heart Syndrome;Journal of Cardiovascular Development and Disease;2022-09-21

5. Expanding the phenotype of TAB2 variants and literature review;American Journal of Medical Genetics Part A;2022-08-16