Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension

Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension

Abstract Background A genetic predisposition can lead to the rare disease pulmonary arterial hypertension (PAH). Most mutations have been identified in the gene BMPR2 in heritable PAH. However, as of today 15 further PAH genes have been described. The exact prevalence across these genes particularly...

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Bibliographic Details
Main Authors: Christina A. Eichstaedt, Zoe Saßmannshausen, Memoona Shaukat, Ding Cao, Panagiota Xanthouli, Henning Gall, Natascha Sommer, Hossein-Ardeschir Ghofrani, Hans-Jürgen Seyfarth, Marianne Lerche, Michael Halank, Janina Kleymann, Nicola Benjamin, Satenik Harutyunova, Benjamin Egenlauf, Katrin Milger, Stephan Rosenkranz, Ralf Ewert, Hans Klose, Marius M. Hoeper, Karen M. Olsson, Mareike Lankeit, Tobias J. Lange, Katrin Hinderhofer, Ekkehard Grünig
Format: Article
Language:English
Published: BMC 2022-03-01
Series:Respiratory Research
Subjects:
Pulmonary arterial hypertension
Genetic testing
Bi-allelic variants
Gene panel diagnostics
Online Access:https://doi.org/10.1186/s12931-022-01987-x

Internet

https://doi.org/10.1186/s12931-022-01987-x

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