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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書目詳細資料
發表在: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.
格式: Artigo
語言:Inglês
出版: National Academy of Sciences 2021
主題:
Biological Sciences
在線閱讀: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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