Article
Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation.
The European respiratory journal - 1 May 2020
Thoré Pierre, Girerd Barbara, Jaïs Xavier, Savale Laurent, Ghigna Maria-Rosa, Eyries Mélanie, Levy Marilyne, Ovaert Caroline, Servettaz Amélie, Guillaumot Anne, Dauphin Claire, Chabanne Céline, Boiffard Emmanuel, Cottin Vincent, Perros Frédéric, Simonneau Gérald, Sitbon Olivier, Soubrier Florent, Bonnet Damien, Remy-Jardin Martine, Chaouat Ari, Humbert Marc, Montani David
Abstract excerpt
INTRODUCTION: TBX4 mutation causes small patella syndrome (SPS) and/or pulmonary arterial hypertension (PAH). The characteristics and outcomes of PAH associated with TBX4 mutations are largely unknown. METHODS: We report the clinical, functional, radiologic, histologic and haemodynamic characteristics and outcomes of heritable PAH patients carrying a TBX4 mutation from the French pulmonary hypertension (PH)...
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