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
Candidate genes of idiopathic pulmonary fibrosis: current evidence and research.
Zhou W et al.
The Application of Clinical Genetics, 2016
Molecular basis of telomere dysfunction in human genetic diseases.
Sarek G et al.
Nature Structural & Molecular Biology, 2015
Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.
Alder JK et al.
Human Mutation, 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
Select a paper to view details