Search Results - "Rindle, Liliana"
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Corrigendum: Clinical and Molecular Heterogeneity of RTEL1 Deficiency
Published in Frontiers in immunology (02-10-2017)“…[This corrects the article on p. 449 in vol. 8, PMID: 28507545.]…”
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Clinical and Molecular Heterogeneity of RTEL1 Deficiency
Published in Frontiers in immunology (01-05-2017)“…Typical features of dyskeratosis congenita (DC) resulting from excessive telomere shortening include bone marrow failure (BMF), mucosal fragility, and…”
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Journal Article -
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Functional Consequences of TCAB1 Mutations in Dyskeratosis Congenita
Published in Blood (02-12-2016)“…Dyskeratosis congenita (DC) is a rare telomere disease with pleiotropic manifestations and bone marrow failure (BMF) as a major cause of mortality. The genes…”
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