A cluster of heritable pulmonary arterial hypertension cases in a family with all three siblings carrying the same novel AQP1 c.273C>G variant‐a case report

Abstract Approximately 25%–30% of patients diagnosed with idiopathic pulmonary arterial hypertension (PAH) have a clustered underlying Mendelian genetic cause and should be classified as heritable PAH (HPAH). The sixth World Symposium on Pulmonary Hypertension listed AQP1 as a PAH‐related gene. AQP1...

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Bibliographic Details
Main Authors: Kae‐Woei Liang, Sheng‐Kai Chang, Yu‐Wei Chen, Wan‐Jane Tsai, Kuo‐Yang Wang
Format: Article
Language:English
Published: Wiley 2023-04-01
Series:Pulmonary Circulation
Subjects:
Online Access:https://doi.org/10.1002/pul2.12211