Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita
F Touzot, L Gaillard, N Vasquez, T Le Guen… - Journal of Allergy and …, 2012 - Elsevier
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 is associated with
microcephaly, cerebellar hypoplasia, and growth retardation. OBJECTIVES: Limited …
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 is associated with
microcephaly, cerebellar hypoplasia, and growth retardation. OBJECTIVES: Limited …