A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease
Abstract 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 w...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2022-11-01
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Series: | BMC Pulmonary Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12890-022-02256-9 |