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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...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:Blood Adv
المؤلفون الرئيسيون: 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.
التنسيق: Artigo
اللغة:Inglês
منشور في: American Society of Hematology 2020
الموضوعات:
الوصول للمادة أونلاين: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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