An emerging phenotype of pulmonary arterial hypertension patients carrying SOX17 variants.
I David MontaniBenoit LechartierBarbara GirerdMélanie EyriesMaria-Rosa GhignaLaurent SavaleXavier JaïsAndrei SeferianMitja JevnikarAthénais BouclyMarianne RiouJulie TracletAri ChaouatMaryline LevyJerome Le PavecElie FadelFrédéric PerrosFlorent SoubrierMartine Remy-JardinOlivier SitbonDamien BonnetMarc HumbertPublished in: The European respiratory journal (2022)
pathogenic variants is a severe phenotype, frequently associated with CHD, haemoptysis and radiologic abnormalities. Pathologic assessment reveals severe pulmonary arterial remodelling and malformations affecting pulmonary vessels and thoracic systemic arteries.
Keyphrases
- pulmonary arterial hypertension
- pulmonary hypertension
- end stage renal disease
- pulmonary artery
- ejection fraction
- newly diagnosed
- early onset
- chronic kidney disease
- spinal cord
- peritoneal dialysis
- prognostic factors
- transcription factor
- neoadjuvant chemotherapy
- squamous cell carcinoma
- spinal cord injury
- lymph node