Associated Papers
A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease.
Zhang C et al.
Bmc Pulmonary Medicine, 2022
Good response to pulmonary arterial hypertension-targeted therapy in 2 pulmonary veno-occlusive disease patients: A case report.
Zhang L et al.
Medicine, 2021
A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension.
Barozzi C et al.
Scientific Reports, 2019
Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.
Zhu N et al.
Circulation. Genomic and Precision Medicine, 2018
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.
Eyries M et al.
Nature Genetics, 2014
Select a paper to view details