Associated Papers
Differential Diagnosis of Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Hemangiomatosis after Identification of Two Novel EIF2AK4 Variants by Whole-Exome Sequencing.
Park JE et al.
Molecular Syndromology, 2023
Screening for pulmonary veno-occlusive disease in heterozygous EIF2AK4 variant carriers.
Lechartier B et al.
The European Respiratory Journal, 2022
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