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Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report
BACKGROUND: Elastin-driven genetic diseases are a group of complex diseases driven by elastin protein insufficiency and dominant-negative production of aberrant protein, including supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Here, a Chinese boy with a novel nonsense mutati...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10656980/ https://www.ncbi.nlm.nih.gov/pubmed/37980465 http://dx.doi.org/10.1186/s12887-023-04408-0 |