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Koumakis, Eugénie; Wipff, Julien; Dieudé, Philippe; Ruiz, Barbara; Bouaziz, Matthieu; Revillod, Lucile; Guedj, Mickaël; Distler, Jörg H. W.; Matucci-Cerinic, Marco; Humbert, Marc; Riemekasten, Gabriella; Airo, Paolo; Melchers, Inga; Hachulla, Eric; Cusi, Daniele; Wichmann, Heinz-Erich; Hunzelmann, Nicolas; Tiev, Kiet; Caramaschi, Paola; Diot, Elisabeth; Kowal-Bielecka, Otylia; Cuomo, Giovanna; Walker, Ulrich; Czirják, László; Damjanov, Nemanja; Lupoli, Sara; Conti, Costanza; Müller-Nurasyid, Martina; Müller-Ladner, Ulf; Riccieri, Valeria; Cracowski, Jean-Luc; Cozzi, Franco; Bournia, Vasiliki Kalliopi; Vlachoyiannopoulos, P.; Chiocchia, Gilles; Boileau, Catherine; Allanore, Yannick (November 2012): TGFβ receptor gene variants in systemic sclerosis-related pulmonary arterial hypertension: results from a multicentre EUSTAR study of European Caucasian patients. In: Annals of the rheumatic diseases, Vol. 71, Nr. 11: S. 1900-1903
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Abstract

Systemic sclerosis (SSc)-related pulmonary arterial hypertension (PAH) has emerged as a major mortality prognostic factor. Mutations of transforming growth factor beta (TGFβ) receptor genes strongly contribute to idiopathic and familial PAH.