The telomere syndromes.

Mary Armanios, Elizabeth H. Blackburn

Research output: Contribution to journalReview article


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.

Original languageEnglish (US)
Pages (from-to)693-704
Number of pages12
JournalNature reviews. Genetics
Issue number10
Publication statusPublished - 2012


ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Armanios, M., & Blackburn, E. H. (2012). The telomere syndromes. Nature reviews. Genetics, 13(10), 693-704.