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Discordant clinical features of identical hypertrophic cardiomyopathy twins

Hypertrophic cardiomyopathy (HCM) is a disease of heart muscle, which affects ∼1 in 500 individuals and is characterized by increased left ventricular wall thickness. While HCM is caused by pathogenic variants in any one of eight sarcomere protein genes, clinical expression varies considerably, even...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Repetti, Giuliana G., Kim, Yuri, Pereira, Alexandre C., Ingles, Jodie, Russell, Mark W., Lakdawala, Neal K., Ho, Carolyn Y., Day, Sharlene, Semsarian, Christopher, McDonough, Barbara, DePalma, Steven R., Quiat, Daniel, Green, Eric M., Seidman, Christine E., Seidman, J. G.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7958207/
https://ncbi.nlm.nih.gov/pubmed/33658374
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.2021717118
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