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Article

Dyskeratosis congenita and telomerase.

Current opinion in pediatrics - 1 Feb 2004

Bessler Monica, Wilson David B, Mason Philip J

Abstract excerpt

PURPOSE OF REVIEW: Dyskeratosis congenita, a rare condition characterized by mucocutaneous abnormalities and bone marrow failure, is caused by inherited defects in the telomerase complex. Autosomal dominant dyskeratosis congenita is associated with mutations in the RNA component of telomerase, hTERC, while X-linked dyskeratosis congenita is due to mutations in the gene encoding dyskerin, a protein implicated in...

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PMID: 14758110
DOI: 10.1097/00008480-200402000-00006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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