Article
An emerging phenotype of pulmonary arterial hypertension patients carrying SOX17 variants.
The European respiratory journal - 1 Dec 2022
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
Abstract excerpt
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 Hypertension Network. RESULTS: 20 patients and eight unaffected relatives were identified. The median (range) age at...
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