Exome Analysis of a Family With Pleiotropic Congenital Heart Disease | Zendy

Cammon B. Arrington | Zendy; Steven B. Bleyl | Zendy; Norisada Matsunami | Zendy; Gabriel D. Bonnell | Zendy; Brith Otterud | Zendy; Douglas C. Nielsen | Zendy; Jeffrey Stevens | Zendy; Shawn Levy | Zendy; Mark Leppert | Zendy; Neil E. Bowles | Zendy

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Exome Analysis of a Family With Pleiotropic Congenital Heart Disease

Author(s) -

Cammon B. Arrington,

Steven B. Bleyl,

Norisada Matsunami,

Gabriel D. Bonnell,

Brith Otterud,

Douglas C. Nielsen,

Jeffrey Stevens,

Shawn Levy,

Mark Leppert,

Neil E. Bowles

Publication year - 2012

Publication title -

circulation cardiovascular genetics

Language(s) - English

Resource type - Journals

eISSN - 1942-325X

pISSN - 1942-3268

DOI - 10.1161/circgenetics.111.961797

Subject(s) - exome sequencing , exome , heart disease , medicine , disease , genetics , bioinformatics , biology , mutation , gene

A number of single gene defects have been identified in patients with isolated or nonsyndromic congenital heart defects (CHDs). However, due to significant genetic heterogeneity, candidate gene approaches have had limited success in finding high-risk alleles in most cases. The purpose of this study was to use exome sequencing to identify high-risk gene variants in a family with highly penetrant pleiotropic CHD.

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