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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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Proc Natl Acad Sci U S A
Κύριοι συγγραφείς: 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.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: National Academy of Sciences 2021
Θέματα:
Διαθέσιμο Online: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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