A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease

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...

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Bibliographic Details
Main Authors: Chun Zhang, Qiang Du, Sha Wang, Ruifeng Zhang
Format: Article
Language:English
Published: BMC 2022-11-01
Series:BMC Pulmonary Medicine
Subjects:
PVOD
EIF2AK4
Compound heterozygous mutation
Whole-exome sequencing
Online Access:https://doi.org/10.1186/s12890-022-02256-9

Internet

https://doi.org/10.1186/s12890-022-02256-9

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