An emerging phenotype of pulmonary arterial hypertension patients carrying SOX17 variants

BACKGROUND: The phenotype of pulmonary arterial hypertension (PAH) patients carrying SOX17 pathogenic variants remains mostly unknown. METHODS: We report the genetic analysis findings, characteristics and outcomes of patients with heritable PAH carrying SOX17 variants from the French Pulmonary Hyper...

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Detalles Bibliográficos
Autores principales: Montani, David, Lechartier, Benoit, Girerd, Barbara, Eyries, Mélanie, Ghigna, Maria-Rosa, Savale, Laurent, Jaïs, Xavier, Seferian, Andrei, Jevnikar, Mitja, Boucly, Athénais, Riou, Marianne, Traclet, Julie, Chaouat, Ari, Levy, Maryline, Le Pavec, Jerome, Fadel, Elie, Perros, Frédéric, Soubrier, Florent, Remy-Jardin, Martine, Sitbon, Olivier, Bonnet, Damien, Humbert, Marc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: European Respiratory Society 2022
Materias:
Original Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10436756/
https://www.ncbi.nlm.nih.gov/pubmed/35618278
http://dx.doi.org/10.1183/13993003.00656-2022

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