Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability

Le Guen, Tangui; Jullien, Laurent; Touzot, Fabien; Schertzer, Michael; Gaillard, Laetitia; Perderiset, Mylène; Carpentier, Wassila; Nitschké, Patrick; Pïcard, Capucine; Couillault, Gérard; Soulier, Jean; Fischer, Alain; Callebaut, Isabelle; Jabado, Nada; Londoño‐Vallejo, Arturo; de Villartay, Jean‐Pierre; Revy, Patrick

doi:10.1093/hmg/ddt178

Public

Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability

Published in Human Molecular Genetics • Apr 15, 2013

Authors:

Tangui Le Guen

Laurent Jullien

Fabien Touzot

Abstract

Hoyeraal-Hreidarsson syndrome (HHS), a severe variant of dyskeratosis congenita (DC), is characterized by early onset bone marrow failure, immunodeficiency and developmental defects. Several factors involved in telomere length maintenance and/or protection are defective in HHS/DC, underlining the re...

Subject

Dyskeratosis congenita

Biology

Genome instability

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