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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Foilsithe in: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.
Formáid: Artigo
Teanga:Inglês
Foilsithe: National Academy of Sciences 2021
Ábhair:
Biological Sciences
Rochtain Ar Líne: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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