Quoc-Khanh Tran-Le

A rare TERT p.Ala880Thr variant associated with familial pulmonary fibrosis and multisystem involvement: Intrafamilial heterogeneity in a Vietnamese kindred – A case series

The case series highlights the need to suspect telomere-related disease when ILD presents at a young age or is accompanied by extrapulmonary features such as cryptogenic liver disease, premature graying, or a suggestive family history and early genetic testing and cascade counseling may improve recognition and longitud...