Pleuroparenchymal fibroelastosis associated with telomerase reverse transcriptase mutations

Abstract excerpt

We read with great interest the article by Newton et al . [1]. They found that mutations in the telomere maintenance machinery genes (telomerase reverse transcriptase ( TERT ), telomerase RNA component ( TERC ), regulator of telomere elongation helicase 1 and poly(A)-specific ribonuclease) led to variable interstitial lung disease (ILD) phenotypes that were universally progressive [1]. We were particularly...

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