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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Publicat a:ERJ Open Res
Autors principals: Giri, Neelam, Ravichandran, Sandhiya, Wang, Youjin, Gadalla, Shahinaz M., Alter, Blanche P., Fontana, Joseph, Savage, Sharon A.
Format: Artigo
Idioma:Inglês
Publicat: European Respiratory Society 2019
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Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6856494/
https://ncbi.nlm.nih.gov/pubmed/31754622
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1183/23120541.00209-2019
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