Fiche publication
Date publication
mars 2025
Journal
Respirology (Carlton, Vic.)
Auteurs
Membres identifiés du Cancéropôle Est :
Pr BONNIAUD Philippe
Tous les auteurs :
Franco G, Ba I, Nathan N, Guerin C, Lassus A, Kannengiesser C, Froidure A, Manali E, Bunel V, Bonniaud P, Bouvry D, Debray MP, Juge PA, Epaud R, Louvrier C, Plessier A, de Fontbrune FS, Wémeau-Stervinou L, Adam SM, Chabrol A, Maurac A, Savale L, Montani D, Raynal C, Konyukh M, Mageau A, Crestani B, Cottin V, de Becdelièvre A, Borie R,
Lien Pubmed
Résumé
Approximately 30% of individuals diagnosed with familial pulmonary fibrosis (FPF) exhibit a pathogenic variant upon genetic analysis. We established a genetic Multidisciplinary Discussion (geneMDD) aimed to enhance expertise in diagnosing and managing FPF. This study aimed at prospectively evaluating the impact of geneMDD on diagnosis and treatment in patients referred to geneMDD.
Mots clés
genetic disorder, interstitial pulmonary fibrosis, multidisciplinary discussion, surfactant related genes, telomerase related genes
Référence
Respirology. 2025 03 26;:
