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

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 to distinct functional classes, are also now known...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: European Respiratory Society 2023
Materias:
Task Force Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9947314/
https://www.ncbi.nlm.nih.gov/pubmed/36302552
http://dx.doi.org/10.1183/13993003.01471-2022

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9947314/
https://www.ncbi.nlm.nih.gov/pubmed/36302552
http://dx.doi.org/10.1183/13993003.01471-2022

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