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Article

Dyskeratosis congenita as a disorder of telomere maintenance.

Mutation research - 1 Feb 2012

Nelson Nya D, Bertuch Alison A

Abstract excerpt

Since 1998, there have been great advances in our understanding of the pathogenesis of dyskeratosis congenita (DC), a rare inherited bone marrow failure and cancer predisposition syndrome with prominent mucocutaneous abnormalities and features of premature aging. DC is now characterized molecularly by the presence of short age-adjusted telomeres. Mutations in seven genes have been unequivocally associated with...

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Identifiers

PMID: 21745483
DOI: 10.1016/j.mrfmmm.2011.06.008
PMCID: PMC3208805

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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