| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5600345 | Chest | 2017 | 29 Pages |
Abstract
Pathogenic biallelic EIF2AK4 mutations are rarely identified in patients diagnosed with HPAH. Identification of pathogenic biallelic EIF2AK4 mutations can aid clinicians in differentiating HPAH from heritable PVOD or PCH.
Keywords
PAOPPCHPVODPAHIPAHHPAHBMPR2EIF2AK4Pulmonary veno-occlusive diseasePVRpulmonary artery occlusion pressureheritable pulmonary arterial hypertensionPulmonary arterial hypertensionPulmonary vascular resistancepulmonary capillary hemangiomatosisPulmonary hypertensionIdiopathic pulmonary arterial hypertensionGenetics
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Authors
D. Hunter PhD, Kelli L. BS, Benjamin P. MD, Kristy BS, Ikue MD, Lynette M. MD, PhD, Youna BS, Eleri MLS (ASCP), Ashley MLS (ASCP), Mohamed A. MS, MB (ASCP), Mark W. MD, PhD, Pinar MD, PhD, C. Gregory MD, FCCP,