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Article

Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita.

Journal of medical genetics - 1 Apr 2011

Savage Sharon A, Giri Neelam, Jessop Lea, Pike Kristen, Plona Teri, Burdett Laurie, Alter Blanche P

Abstract excerpt

BACKGROUND: Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterised by dystrophic nails, abnormal skin pigmentation and oral leukoplakia. Patients are at very high risk of cancer and other medical problems. They have exceedingly short telomeres for their age and approximately 60% have a germline mutation in a gene important in telomere biology (DKC1, TERC, TERT, TINF2, NOP10, or...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21209122
DOI: 10.1136/jmg.2010.082727

Genes

TINF2
ACD
DKC1
NHP2
NOP10
POT1
TERT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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