Discordant clinical features of identical hypertrophic cardiomyopathy twins

Significance Genetics, notably pathogenic genetic variants in sarcomere protein genes, play a major role in development of hypertrophic cardiomyopathy (HCM). However, degree of contribution from epigenetic and environmental factors in clinical presentation of HCM is currently unclear. We investigate...

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書誌詳細
主要な著者: Giuliana G. Repetti, Yuri Kim, Alexandre C. Pereira, Jodie Ingles, Mark W. Russell, Neal K. Lakdawala, Carolyn Y. Ho, Sharlene M. Day, Christopher Semsarian, Barbara McDonough, Steven R. DePalma, Daniel Quiat, Eric M. Green, Christine E. Seidman, Jonathan G. Seidman
フォーマット: Artigo
言語:英語
出版事項: 2021
オンライン・アクセス:https://doi.org/10.1073/pnas.2021717118
https://www.pnas.org/doi/pdf/10.1073/pnas.2021717118
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