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Article

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.

Blood - 1 Nov 2008

Walne Amanda J, Vulliamy Tom, Beswick Richard, Kirwan Michael, Dokal Inderjeet

Abstract excerpt

Dyskeratosis congenita (DC) is a multisystem bone marrow failure syndrome characterized by a triad of mucocutaneous abnormalities and a predisposition to cancer. The genetic basis of DC remains unknown in more than 60% of patients. Mutations have been identified in components of the telomerase complex (dyskerin, TERC, TERT, NOP10, and NHP2), and recently in one component of the shelterin complex TIN2 (gene...

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Source

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Identifiers

PMID: 18669893
DOI: 10.1182/blood-2008-05-153445
PMCID: PMC2572788

Genes

TINF2
NHP2
NOP10
TERT

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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TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.PMID 18669893Read ↗

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