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Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults.

Rémi DieslerMarie LegendreSalim Aymeric Si-MohamedPierre-Yves BrilletLidwine WemeauEffrosyni D ManaliGagnadoux FredericSandrine HirschiGwenaël LorillonMartine Reynaud-GaubertVanessa BironneauElodie BlanchardArnaud BourdinStéphane DominiqueAurélien JustetJulie MaceySylvain Marchand-AdamHélène Morisse-PradierHilario NunesSpyros A PapirisJulie TracletIbrahim TraoreBruno CrestaniSerge AmselemNadia NathanRaphael BorieVincent Cottinnull null
Published in: Respirology (Carlton, Vic.) (2024)
SFTPC and ABCA3-associated ILD present with a distinct phenotype and prognosis. A radiologic pattern of fibrosing ILD with ground-glass opacities and/or cysts is frequently found in these rare conditions.
Keyphrases
  • interstitial lung disease
  • systemic sclerosis
  • rheumatoid arthritis
  • idiopathic pulmonary fibrosis
  • copy number
  • gene expression
  • genome wide