Associated Papers
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
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.
Norberg A et al.
European Journal of Human Genetics : Ejhg, 2018
[Clinical and genetic characteristics of a patient with dyskeratosis congenita].
Li JG et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita.
Carrillo J et al.
Blood Cells, Molecules & Diseases, 0
Select a paper to view details