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...

Full description

Bibliographic Details
Main Authors: Barbara Girerd, Jason Weatherald, David Montani, Marc Humbert
Format: Article
Language:English
Published: European Respiratory Society 2017-09-01
Series:European Respiratory Review
Online Access:http://err.ersjournals.com/content/26/145/170037.full