Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation.

Headrick, Andrew T; Rosenfeld, Jill A; Yang, Yaping; Tunuguntla, Hari; Allen, Hugh D; Penny, Daniel J; Kim, Jeffrey J; Landstrom, Andrew P

Headrick, Andrew T; Rosenfeld, Jill A; Yang, Yaping; Tunuguntla, Hari; Allen, Hugh D; Penny, Daniel J; Kim, Jeffrey J; Landstrom, Andrew P.

Afiliación

Headrick AT; Department of Pediatrics, Section of Pediatric Cardiology, Baylor College of Medicine, Houston, Texas.
Rosenfeld JA; Department of Molecular and Human Genetics and Baylor Genetics Laboratories, Baylor College of Medicine, Houston, Texas.
Yang Y; Department of Molecular and Human Genetics and Baylor Genetics Laboratories, Baylor College of Medicine, Houston, Texas.
Tunuguntla H; 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.
Penny DJ; Department of Pediatrics, Section of Pediatric Cardiology, Baylor College of Medicine, Houston, Texas.
Kim JJ; 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.

Mol Genet Genomic Med ; 7(6): e593, 2019 06.

Article en En | MEDLINE | ID: mdl-30985088

Asunto(s)

Displasia Ventricular Derecha Arritmogénica/genética; Adolescente; Alelos; Niño; Preescolar; Estudios de Cohortes; Desmogleína 2/genética; Exoma/genética; Femenino; Frecuencia de los Genes/genética; Predisposición Genética a la Enfermedad/genética; Pruebas Genéticas/métodos; Variación Genética/genética; Humanos; Hallazgos Incidentales; Masculino; Mutación; Placofilinas/genética; Estudios Retrospectivos; Secuenciación del Exoma/métodos

Palabras clave

arrhythmogenic right ventricular cardiomyopathy; genetic testing; genetics; incidental finding; secondary finding; variant of undetermined significance; whole exome sequencing

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Displasia Ventricular Derecha Arritmogénica Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Mol Genet Genomic Med Año: 2019 Tipo del documento: Article

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