Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-G...
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
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Cham: Springer International Publishing
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Language
English
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Cham: Springer International Publishing
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Background and Objective
Pediatric cardiomyopathies are clinically heterogeneous heart muscle disorders associated with significant morbidity and mortality for which substantial evidence for a genetic contribution was previously reported. We present a detailed molecular investigation of a cohort of 231 patients presenting with primary cardiomyop...
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Full title
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
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TN_cdi_proquest_journals_2707253329
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2707253329
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ISSN
1177-1062
E-ISSN
1179-2000
DOI
10.1007/s40291-022-00604-3
