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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Detalles Bibliográficos
Autores principales: Long, Pamela A., Larsen, Brandon T., Evans, Jared M., Olson, Timothy M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845292/
https://www.ncbi.nlm.nih.gov/pubmed/26656454
http://dx.doi.org/10.1161/JAHA.115.002443

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845292/
https://www.ncbi.nlm.nih.gov/pubmed/26656454
http://dx.doi.org/10.1161/JAHA.115.002443

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