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Article

Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita

11 Mar 2022

Abstract excerpt

Dyskeratosis congenital (DC) is the first genetic syndrome described among telomeropathies. Its classical phenotype is characterized by the mucocutaneous triad of reticulated pigmentation of skin lace, nail dystrophy and oral leukoplakia. The clinical presentation, however, is heterogeneous and serious clinical complications include bone marrow failure, hematological and solid tumors. It may also involve...

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Share to Advanced biosensing and bioanalysis techniques
Share to Telomeres, Telomerase, and Senescence

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35328050
DOI: 10.3390/genes13030496

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