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Nat Rev Genet. 2012 Oct;13(10):693-704. doi: 10.1038/nrg3246. Epub 2012 Sep 11.

The telomere syndromes.

Author information

  • 1Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA. marmani1@jhmi.edu

Erratum in

  • Nat Rev Genet. 2013 Mar;14(3):235.

Abstract

There has been mounting evidence of a causal role for telomere dysfunction in a number of degenerative disorders. Their manifestations encompass common disease states such as idiopathic pulmonary fibrosis and bone marrow failure. Although these disorders seem to be clinically diverse, collectively they comprise a single syndrome spectrum defined by the short telomere defect. Here we review the manifestations and unique genetics of telomere syndromes. We also discuss their underlying molecular mechanisms and significance for understanding common age-related disease processes.

PMID:
22965356
PMCID:
PMC3548426
DOI:
10.1038/nrg3246
[PubMed - indexed for MEDLINE]
Free PMC Article
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