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