Article
Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.
Blood advances - 13 Oct 2020
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
Abstract excerpt
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 of telomere genes in adults remain understudied. Thus, we screened adults aged ≥18 years with a personal and/or...
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