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Idiopathic pulmonary fibrosis with benign SFTPC variant and pathogenic MARS1 mutations: can't see the forest for the trees!
Castaldo, Alice; Delestrain, Celine; Diesler, Rémi; Merveilleux du Vignaux, Claire; Onnee, Marion; Touraine, Renaud; Chalabreysse, Lara; Fanen, Pascale; Epaud, Ralph; Cottin, Vincent; De Becdelièvre, Alix.
Afiliación
  • Castaldo A; Centre Hospitalier Intercommunal de Créteil, Service de Pédiatrie Générale, Créteil, France.
  • Delestrain C; Department of Translational Medical Sciences, University Federico II, Naples, Italy.
  • Diesler R; A. Castaldo and C. Delestrain contributed equally.
  • Merveilleux du Vignaux C; Centre Hospitalier Intercommunal de Créteil, Service de Pédiatrie Générale, Créteil, France.
  • Onnee M; Univ Paris Est Creteil, INSERM, IMRB, F-94010 Creteil, France.
  • Touraine R; Centre des Maladies Respiratoires Rare, Respirare, Créteil, France.
  • Chalabreysse L; A. Castaldo and C. Delestrain contributed equally.
  • Fanen P; Coordinating Reference Center for Rare Pulmonary Diseases, OrphaLung, Louis Pradel Hospital, ERN-LUNG, University of Lyon, INRAE, Lyon, France.
  • Epaud R; Coordinating Reference Center for Rare Pulmonary Diseases, OrphaLung, Louis Pradel Hospital, ERN-LUNG, University of Lyon, INRAE, Lyon, France.
  • Cottin V; Univ Paris Est Creteil, INSERM, IMRB, F-94010 Creteil, France.
  • De Becdelièvre A; Service de Genetique Clinique, Chromosomique et Moléculaire, CHU-Hôpital Nord, Saint Étienne, France.
ERJ Open Res ; 9(6)2023 Nov.
Article en En | MEDLINE | ID: mdl-37936900
ABSTRACT
Even in the absence of liver disease, MARS1 screening should be considered in severe lung fibrosis of young individuals. Interpretation of the genetic variants can evolve with improvement of knowledge (databases, bioinformatic tools) over time. https//bit.ly/45OxF5E.
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Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: ERJ Open Res Año: 2023 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: ERJ Open Res Año: 2023 Tipo del documento: Article