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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Detalles Bibliográficos
Autores principales: Giri, Neelam, Ravichandran, Sandhiya, Wang, Youjin, Gadalla, Shahinaz M., Alter, Blanche P., Fontana, Joseph, Savage, Sharon A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: European Respiratory Society 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856494/
https://www.ncbi.nlm.nih.gov/pubmed/31754622
http://dx.doi.org/10.1183/23120541.00209-2019

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