Associated Papers
Adult male patients with DKC1 mutations present early-onset pulmonary fibrosis and severe prognosis.
Evrard O et al.
Erj Open Research, 2026
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
39198715 (PubMed )
Supplement: 44321_2024_118_MOESM4_ESM.xlsx › Dataset_EV1
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome.
Chu CM et al.
Npj Genomic Medicine, 2022
36309505 (PubMed )
Supplement: 41525_2022_335_MOESM1_ESM.pdf
Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad.
Wang L et al.
Frontiers in Pediatrics, 2022
Pathogenic TERT promoter variants in telomere diseases.
Gutierrez-Rodrigues F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30523342 (PubMed )
Supplement: 41436_2018_385_MOESM1_ESM.pdf
Molecular basis of telomere dysfunction in human genetic diseases.
Sarek G et al.
Nature Structural & Molecular Biology, 2015
[Clinical and genetic characteristics of a patient with dyskeratosis congenita].
Li JG et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation.
de la Fuente J et al.
Pediatric Transplantation, 2007
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.
Vulliamy TJ et al.
Blood, 2006
Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.
Marrone A et al.
Expert Reviews in Molecular Medicine, 2004
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