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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease pancytopenia
Comorbidity C0265965|dyskeratosis congenita
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PubMedID- 24490752 Furthermore, patients with acquired aplastic anemia or dyskeratosis congenita--two diseases associated with progressive bone marrow failure and severe telomere attrition--are predicted to be prematurely aged.
PubMedID- 20700438 Rare variations/mutations in the tert gene have been described as a risk factor for acute myelogenous leukemia and also explain a proportion of the inherited bone marrow failure family pedigrees with dyskeratosis congenita, a cancer predisposition syndrome [28], [29].

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