Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant

Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant

Abstract TNNI3 is a gene that causes hypertrophic cardiomyopathy (HCM). A 14-year-old girl who was diagnosed with nonobstructive HCM presented with cardiopulmonary arrest due to ventricular fibrillation. Genetic testing revealed a novel de novo heterozygous missense variant in TNNI3, NM_000363.5:c.5...

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Bibliographic Details
Main Authors: Natsuko Inagaki, Tomoya Okano, Masatake Kobayashi, Masatsune Fujii, Yoshinao Yazaki, Yasuyoshi Takei, Hisanori Kosuge, Shinji Suzuki, Takeharu Hayashi, Masahiko Kuroda, Kazuhiro Satomi
Format: Article
Language:English
Published: Nature Publishing Group 2024-03-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-024-00272-1

Internet

https://doi.org/10.1038/s41439-024-00272-1

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