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Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders

1 Jun 2013

Abstract excerpt

Dyskeratosis congenita (DC) is a cancer-prone inherited bone marrow failure syndrome caused by aberrant telomere biology. The mucocutaneous triad of nail dysplasia, abnormal skin pigmentation and oral leukoplakia is diagnostic, but is not always present; DC can also be diagnosed by the presence of very short leukocyte telomeres. Patients with DC are at high risk of bone marrow failure, pulmonary fibrosis, liver...

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PMID: 23782086
DOI: 10.1586/ehm.13.23

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