A novel BMPR2 mutation with widely disparate heritable pulmonary arterial hypertension clinical phenotype

Author:

Oriaku Ifeoma1,LeSieur Mallory N.2,Nichols William C.3,Barrios Roberto4,Elliott C. Gregory5,Frost Adaani6ORCID

Affiliation:

1. Department of MedicineHouston Methodist HospitalWeill Cornell, College of MedicineHoustonTXUSA

2. Department of MedicineUniversity of UtahSalt Lake CityUTUSA

3. Division of Human GeneticsCincinnati Children's Hospital Medical CenterCincinnatiOHUSA

4. Department of PathologyHouston Methodist HospitalWeill Cornell College of MedicineHoustonTXUSA

5. Pulmonary DivisionIntermountain Medical CenterMurrayUTUSA

6. Houston Methodist Hospital Research InstituteInstitute for Academic MedicineHoustonTXUSA

Funder

National Institutes of Health

National Heart, Lung, and Blood Institute

Bill Nichols

Publisher

Wiley

Subject

Pulmonary and Respiratory Medicine

Reference11 articles.

1. Genetics and genomics of pulmonary arterial hypertension, World Symposium on Pulmonary Hypertension Series;Morrell NW;Eur Respir J,2019

2. EIF2AK4 mutations in pulmonary capillary hemangiomatosis;Best DH;Chest,2014

3. EIF2AK4 mutations cause pulmonary veno‐occlusive disease;Eyries M;Nat Genet,2014

4. BMPR2 mutation status influences bronchial vascular changes in pulmonary arterial hypertension;Ghigna M‐R;Eur Respir J,2016

5. Haemodynamic definitions and updated clinical classification of pulmonary hypertension;Simonneau G;Eur Respir J,2019

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