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A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease
BACKGROUND: Pulmonary veno-occlusive disease (PVOD) is a rare, progressive, and oft-fatal condition of pulmonary arterial hypertension that is typically difficult to diagnose and treat. However, with the development of next-generation sequencing technology, an increasing number of patients with PVOD...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9710057/ https://www.ncbi.nlm.nih.gov/pubmed/36451176 http://dx.doi.org/10.1186/s12890-022-02256-9 |