Genetic counselling and testing in pulmonary arterial hypertension -A consensus statement on behalf of the International Consortium for Genetic Studies in PAH

Autor: Eichstaedt, Christina A., Belge, Catharina, Chung, Wendy K., Gräf, Stefan, Grünig, Ekkehard, Montani, David, Quarck, Rozenn, Tenorio-Castano, Jair A., Soubrier, Florent, Trembath, Richard C., Morrell, Nicholas W., Aldred, Micheala A., Archer, Stephen L., Austin, Eric D., Badagliacca, Roberto, Balanchandar, Srimmitha, Barberà, Joan Albert, Benza, Raymond L., Berger, Rolf M.F., Bogaard, Harm Jan, Bonnet, Sébastien, Boomars, Karin A., Boucherat, Olivier, Chakinala, Murali M., Condliffe, Robin, Damico, Rachel Lynn, Delcroix, Marion, Desai, Ankit A., Doboszynska, Anna, Dooijes, Dennis, Elliott, C. Greg, Eyries, Melanie, Subías, Maria Pilar Escribano, Gall, Henning, García-Aranda, Beatriz, Ghio, Stefano, Ghofrani, Hossein Ardeschir, Hamid, Rizwan, Hassoun, Paul M., Hemnes, Anna R., Hinderhofer, Katrin, Houweling, Arjan C., Howard, Luke S., Humbert, Marc, Kiely, David G., Kovacs, Gabor, Langleben, David, Lapunzina, Pablo, Lawrie, Allan, Loyd, Jim E.

Publikováno v: European Respiratory Journal, 61(2):2201471. European Respiratory Society
PAH-ICON 2023, ' Genetic counselling and testing in pulmonary arterial hypertension : a consensus statement on behalf of the International Consortium for Genetic Studies in PAH ', European Respiratory Journal, vol. 61, no. 2, 2201471 . https://doi.org/10.1183/13993003.01471-2022

Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by (likely) pathogenic germline genomic variants. In addition to the most prevalent disease gene, BMPR2 (bone morphogenetic protein receptor 2), several genes, some belonging

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::892947a5bbd2b3a7cb8d25fbe3df3918
https://pubmed.ncbi.nlm.nih.gov/36302552