Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension

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 in other PAH forms...

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Main Authors:	Eichstaedt, Christina (Author) , Saßmannshausen, Zoe (Author) , Shaukat, Memoona (Author) , Cao, Ding (Author) , Xanthouli, Panagiota (Author) , Gall, Henning (Author) , Sommer, Natascha (Author) , Ghofrani, Hossein-Ardeschir (Author) , Seyfarth, Hans-Jürgen (Author) , Lerche, Marianne (Author) , Halank, Michael (Author) , Kleymann, Janina (Author) , Benjamin, Nicola (Author) , Harutyunova, Satenik (Author) , Egenlauf, Benjamin (Author) , Milger, Katrin (Author) , Rosenkranz, Stephan (Author) , Ewert, Ralf (Author) , Klose, Hans (Author) , Hoeper, Marius M. (Author) , Olsson, Karen M. (Author) , Lankeit, Mareike (Author) , Lange, Tobias J. (Author) , Hinderhofer, Katrin (Author) , Grünig, Ekkehard (Author)
Format:	Article (Journal)
Language:	English
Published:	27 March 2022
In:	Respiratory research Year: 2022, Volume: 23, Pages: 1-12
ISSN:	1465-993X
DOI:	10.1186/s12931-022-01987-x
Online Access:	Verlag, kostenfrei, Volltext: https://doi.org/10.1186/s12931-022-01987-x
Author Notes:	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 and Ekkehard Grünig