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Article

Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita.

The Journal of allergy and clinical immunology - 1 Feb 2012

Touzot Fabien, Gaillard Laetitia, Vasquez Nadia, Le Guen Tangui, Bertrand Yves, Bourhis Jean, Leblanc Thierry, Fischer Alain, Soulier Jean, de Villartay Jean-Pierre, Revy Patrick

Abstract excerpt

BACKGROUND: Telomeres represent the tips of linear chromosomes. In human subjects telomere maintenance deficiency leads to dyskeratosis congenita (DC), a rare genetic disorder characterized by progressive bone marrow failure, accelerated aging, and cancer predisposition. Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency...

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Identifiers

PMID: 22078571
DOI: 10.1016/j.jaci.2011.09.043

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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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