ArticleArquivos brasileiros de cardiologia2024
FLNC Associated Restrictive Cardiomyopathy and Hypertrabeculation, a Rare Association.
Article in Arquivos brasileiros de cardiologia, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
2 citing papers in PubMed.
- Novel FLNC variants in pediatric cardiomyopathy: an insight into disease mechanisms.Human genomics · 2024Article
- Case Report: Filamin C gene mutation associated with restrictive cardiomyopathy leading to heart transplantation.Frontiers in transplantation · 2024Article
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A six-year-old girl with restrictive cardiomyopathy and hypertrabeculation, due to the early onset of her disease, whole exome sequencing was conducted, revealing the presence of a novel heterozygous missense variant in the FLNC gene. The same gene variant was also identified in her father, who, at an adult age, displayed normal imaging results and was symptom-free. This variant has not been reported in population databases or current medical literature and is classified as likely pathogenic.
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Registered trials
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