Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology,Genetics,Molecular Medicine,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s40291-022-00604-3.pdf
Reference35 articles.
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3. Taylor MR, Carniel E, Mestroni L. Cardiomyopathy, familial dilated. Orphanet J Rare Dis. 2006;1:27. https://doi.org/10.1186/1750-1172-1-27.
4. Hershberger RE, Hedges DJ, Morales A. Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol. 2013;10:531–47. https://doi.org/10.1038/nrcardio.2013.105.
5. Semsarian C, Ingles J, Maron MS, Maron BJ. New perspectives on the prevalence of hypertrophic cardiomyopathy. J Am Coll Cardiol. 2015;65:1249–54. https://doi.org/10.1016/j.jacc.2015.01.019.
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