Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy

BACKGROUND: Idiopathic dilated cardiomyopathy (DCM) is typically diagnosed in adulthood, yet familial cases exhibit variable age‐dependent penetrance and a subset of patients develop sporadic DCM in childhood. We sought to discover the molecular basis of sporadic DCM in an 11‐year‐old female with se...

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Bibliographic Details
Published in:J Am Heart Assoc
Main Authors: Long, Pamela A., Larsen, Brandon T., Evans, Jared M., Olson, Timothy M.
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2015
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Original Research
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4845292/
https://ncbi.nlm.nih.gov/pubmed/26656454
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/JAHA.115.002443
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