Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis
Tifenn Desroziers, Grégoire Prévôt, Aurore Coulomb, Valérie Nau, Florence Dastot‐Le Moal, Philippe Duquesnoy, Mélanie Héry, A. Le Borgne, Serge Amselem, Marie Legendre, Nadia Nathan
Topics & Concepts
ProbandPenetranceBiologyIdiopathic pulmonary fibrosisRNA splicingPulmonary fibrosisGeneGeneticsMutationLungImmunologyMedicinePhenotypeInternal medicineRNANeonatal Respiratory Health ResearchInterstitial Lung Diseases and Idiopathic Pulmonary FibrosisCongenital Diaphragmatic Hernia Studies