The European respiratory journal
Pulmonary hypertension in patients with Noonan syndrome.
Julien Grynblat, Mathieu Farges, Pascal Magro, Laurent Savale, Maria-Rosa Ghigna, Julia Tagmouti, Xavier Jais, Athénaïs Boucly, Marilyne Levy, Fabrice Antigny, Olivier Meyrignac, Stanislas Lyonnet, Helene Cavé, Romain Nicolle, Sylvain Marchand-Adam
Published: 202510.1183/13993003.01796-2025
Abstract
BACKGROUND: Noonan syndrome (NS) is a RASopathy inherited in an autosomal dominant manner, mainly caused by gain-of-function variants activating the RAS/MAPK signalling pathway. Pulmonary hypertension (PH) may occur in NS, but its mechanisms, clinica…
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