Mutations in the human telomerase RNA gene (TERC) cause autosomal dominant dyskeratosis congenita and have been detected in individuals with bone marrow failure. Here, we screened for TERC mutations in a cohort of 80 children with hypocellular myelodysplastic syndrome and detected TERC alterations in two of them.
CA Ortmann, CM Niemeyer, A Wawer, W Ebell, I Baumann, CP Kratz. TERC mutations in children with refractory cytopenia. Haematologica 2006;91(5):707-708; https://doi.org/10.3324/%x.
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