Different forms of pulmonary hypertension in a family with clinical and genetic evidence for hereditary hemorrhagic teleangectasia type 2
Hereditary hemorrhagic telangiectasia (HTT) is an autosomal dominant disease, most frequently caused by a mutation in either ENG or ACVRL1 , which can be associated with pulmonary arterial hypertension (PAH). In this report, we describe a new unpublished ACVRL1 mutation segregating in three members...
Main Authors: | , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
SAGE Publishing
2018-06-01
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Series: | Pulmonary Circulation |
Online Access: | https://doi.org/10.1177/2045894018782664 |