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Dyskeratosis congenita as a disorder of telomere maintenance.
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Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders.
Academic Article
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Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy.
Academic Article
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Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita.
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Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita.
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Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification.
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Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congenita.
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Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita.
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Outcome of haematopoietic stem cell transplantation in dyskeratosis congenita.
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Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita.
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Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.
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BERTUCH, ALISON
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TIN2L phosphorylation and dyskeratosis congenita pathogenic variants in telomere maintenance
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Immunologic profile of a patient with dyskeratosis congenita
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Dyskeratosis Congenita
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