Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder

Pulmonary fibrosis and pulmonary arteriovenous malformations are known manifestations of dyskeratosis congenita (DC), a telomere biology disorder (TBD) and inherited bone marrow failure syndrome caused by germline mutations in telomere maintenance genes resulting in very short telomeres. Baseline pu...

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Bibliographic Details
Main Authors: Neelam Giri, Sandhiya Ravichandran, Youjin Wang, Shahinaz M. Gadalla, Blanche P. Alter, Joseph Fontana, Sharon A. Savage
Format: Article
Language:English
Published: European Respiratory Society 2019-11-01
Series:ERJ Open Research
Online Access:http://openres.ersjournals.com/content/5/4/00209-2019.full