Article
Interstitial lung diseases associated with mutations of poly(A)-specific ribonuclease: A multicentre retrospective study.
Respirology (Carlton, Vic.) - 1 Mar 2022
Philippot Quentin, Kannengiesser Caroline, Debray Marie Pierre, Gauvain Clément, Ba Ibrahima, Vieri Margherita, Gondouin Anne, Naccache Jean-Marc, Reynaud-Gaubert Martine, Uzunhan Yurdagul, Bondue Benjamin, Israël-Biet Dominique, Dieudé Philippe, Fourrage Cécile, Lainey Elodie, Manali Effrosyne, Papiris Spyros, Wemeau Lidwine, Hirschi Sandrine, Mal Hervé, Nunes Hilario, Schlemmer Frédéric, Blanchard Elodie, Beier Fabian, Cottin Vincent, Crestani Bruno, Borie Raphaël
Abstract excerpt
BACKGROUND AND OBJECTIVE: Poly(A)-specific ribonuclease (PARN) mutations have been associated with familial pulmonary fibrosis. This study aims to describe the phenotype of patients with interstitial lung disease (ILD) and heterozygous PARN mutations. METHODS: We performed a retrospective, observational, non-interventional study of patients with an ILD diagnosis and a pathogenic heterozygous PARN mutation...
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