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Titel:

Reclassification of genetic variants in children with long QT syndrome.

Dokumenttyp:
Journal Article
Autor(en):
Westphal, Dominik S; Burkard, Tobias; Moscu-Gregor, Alexander; Gebauer, Roman; Hessling, Gabriele; Wolf, Cordula M
Abstract:
BACKGROUND: Genes encoding cardiac ion channels or regulating proteins have been associated with the inherited form of long QT syndrome (LQTS). Complex pathophysiology and missing functional studies, however, often bedevil variant interpretation and classification. We aimed to evaluate the rate of change in variant classification based on current interpretation standards and dependent on clinical findings. METHODS: Medical charts of children with a molecular genetic diagnosis of LQTS presenting...     »
Zeitschriftentitel:
Mol Genet Genomic Med
Jahr:
2020
Band / Volume:
8
Heft / Issue:
9
Volltext / DOI:
doi:10.1002/mgg3.1300
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/32383558
TUM Einrichtung:
Institut für Humangenetik; Klinik für Herz- und Kreislauferkrankungen im Erwachsenenalter (Prof. Schunkert)
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