Associated Papers
Adult male patients with DKC1 mutations present early-onset pulmonary fibrosis and severe prognosis.
Evrard O et al.
Erj Open Research, 2026
A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.
Villeneuve J et al.
American Journal of Respiratory Cell and Molecular Biology, 2024
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
A Novel Missense Mutation of DKC1 In Dyskeratosis Congenita With Pulmonary Fibrosis.
Hisata S et al.
Sarcoidosis, Vasculitis, and Diffuse Lung Diseases : Official Journal of Wasog, 2013
[Clinical and genetic characteristics of a patient with dyskeratosis congenita].
Li JG et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
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