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Article

Dyskeratosis congenita.

FEBS letters - 10 Sept 2010

Bessler Monica, Wilson David B, Mason Philip J

Abstract excerpt

Dyskeratosis congenita (DC) was originally defined as a rare inherited bone marrow failure (BMF) syndrome associated with distinct mucocutaneous features. Today DC is defined by its pathogenetic mechanism and mutations in components of the telomere maintenance machinery resulting in excessively short telomeres in highly proliferating tissues. With this new definition the disease spectrum has broadened and ranges...

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Source

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Identifiers

PMID: 20493861
DOI: 10.1016/j.febslet.2010.05.019
PMCID: PMC3238451

Genes

BMF

Provenance

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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