Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations

Telomere biology disorders (TBDs) present heterogeneously, ranging from infantile bone marrow failure associated with very short telomeres to adult-onset interstitial lung disease (ILD) with normal telomere length. Yield of genetic testing and phenotypic spectra for TBDs caused by the expanding list...

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Detalhes bibliográficos
Publicado no:Blood Adv
Main Authors: Feurstein, Simone, Adegunsoye, Ayodeji, Mojsilovic, Danijela, Vij, Rekha, West DePersia, Allison H., Rajagopal, Padma Sheila, Osman, Afaf, Collins, Robert H., Kim, Raymond H., Gore, Steven D., Greenberg, Peter, Godley, Lucy A., Li, Zejuan, del Gaudio, Daniela, Subramanian, Hari Prasanna, Das, Soma, Walsh, Tom, Gulsuner, Suleyman, Segal, Jeremy P., Husain, Aliya N., Gurbuxani, Sandeep, King, Mary-Claire, Strek, Mary E., Churpek, Jane E.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2020
Assuntos:
Myeloid Neoplasia
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7556157/
https://ncbi.nlm.nih.gov/pubmed/33035329
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2020001721
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