Heritable pulmonary hypertension: from bench to bedside
Mutations in the BMPR2 gene, and more rarely in ACVRL1, endoglin, caveolin-1, KCNK3 and TBX4 genes predispose to heritable pulmonary arterial hypertension, an autosomal dominant disease with incomplete penetrance. Bi-allelic mutations in the EIF2AK4 gene predispose to heritable pulmonary veno-occlus...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
European Respiratory Society
2017-09-01
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| Series: | European Respiratory Review |
| Online Access: | http://err.ersjournals.com/content/26/145/170037.full |