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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Pubblicato in:Blood Adv
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Hematology 2020
Soggetti:
Myeloid Neoplasia
Accesso online: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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