Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt–Oram syndrome
Author:
Affiliation:
1. West of Scotland Clinical Genetics Service Queen Elizabeth University Hospital Glasgow UK
2. Department of Cardiology Queen Elizabeth University Hospital Glasgow UK
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61635
Reference43 articles.
1. Molecular basis of the clinical features of Holt–Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications
2. Identification ofTBX5mutations in a series of 94 patients with Tetralogy of Fallot
3. Holt Oram syndrome: a registry-based study in Europe
4. The Clinical and Genetic Spectrum of the Holt-Oram Syndrome (Heart-Hand Syndrome)
5. Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome
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1. TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant;European Journal of Medical Genetics;2024-04
2. Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects—A Narrative Review;Children;2023-04-29
3. Case report: Novel TBX5-related pathogenic mechanism of Holt–Oram syndrome;Frontiers in Genetics;2023-03-01
4. KLF13 Loss‐of‐Function Mutations Underlying Familial Dilated Cardiomyopathy;Journal of the American Heart Association;2022-11-15
5. TBX5 variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects;Molecular Medicine Reports;2022-05-04
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