A 14-year-old in heart failure with multiple cardiomyopathy variants illustrates a role for signal-to-noise analysis in gene test re-interpretation.

Connell, Patrick S; Jeewa, Aamir; Kearney, Debra L; Tunuguntla, Hari; Denfield, Susan W; Allen, Hugh D; Landstrom, Andrew P

Connell, Patrick S; Jeewa, Aamir; Kearney, Debra L; Tunuguntla, Hari; Denfield, Susan W; Allen, Hugh D; Landstrom, Andrew P.

Afiliação

Connell PS; Department of Pediatrics, Section of Pediatric Cardiology Baylor College of Medicine Houston Texas.
Jeewa A; Department of Pediatrics, Division of Pediatric Cardiology The Hospital for Sick Children Toronto Ontario Canada.
Kearney DL; Department of Pathology & Immunology Baylor College of Medicine Houston Texas.
Tunuguntla H; Department of Pediatrics, Section of Pediatric Cardiology Baylor College of Medicine Houston Texas.
Denfield SW; Department of Pediatrics, Section of Pediatric Cardiology Baylor College of Medicine Houston Texas.
Allen HD; Department of Pediatrics, Section of Pediatric Cardiology Baylor College of Medicine Houston Texas.
Landstrom AP; Department of Pediatrics, Section of Pediatric Cardiology Baylor College of Medicine Houston Texas.

Clin Case Rep ; 7(1): 211-217, 2019 Jan.

Article em En | MEDLINE | ID: mdl-30656044

Palavras-chave

cardiomyopathy; genetic testing; variant of unknown significance; whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Clin Case Rep Ano de publicação: 2019 Tipo de documento: Article

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