A New Pathogenic Variant of the RTEL1 Gene and Dyskeratosis Congenita: A Dermatological View

Authors

  • Sanaz Amin Guldmann Department of Dermatology and Allergy, Copenhagen University Hospital, Herlev and Gentofte, Gentofte Hospitalsvej 1, DK-2900 Hellerup, Denmark
  • Anna Byrjalsen 2) Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
  • Saher Shaker 3) Department of Respiratory Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
  • Jesper Elberling 1) Department of Dermatology and Allergy, Copenhagen University Hospital, Herlev and Gentofte, Copenhagen, Denmark

DOI:

https://doi.org/10.2340/actadv.v102.919

Keywords:

dyskeratosis congenita, atopic dermatitis, pulmonary fibrosis, genodermatosis, RTEL1-gene

Abstract

Abstract is missing (Short communication)

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References

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https://doi.org/10.1016/j.tcb.2014.01.004 DOI: https://doi.org/10.1016/j.tcb.2014.01.004

AlSabbagh MM. Dyskeratosis congenita: a literature review. J Dtsch Dermatol Ges 2020; 18: 943-967.

https://doi.org/10.1111/ddg.14268 DOI: https://doi.org/10.1111/ddg.14268

Wu K, Higashi N, Hansen ER, Lund M, Bang K, Thestrup-Pedersen K. Telomerase activity is increased and telomere length shortened in T cells from blood of patients with atopic dermatitis and psoriasis. J Immunol 2000; 165: 4742-4747.

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Published

2022-05-10

How to Cite

Amin Guldmann, S., Byrjalsen, A. ., Shaker, S., & Elberling, J. (2022). A New Pathogenic Variant of the RTEL1 Gene and Dyskeratosis Congenita: A Dermatological View. Acta Dermato-Venereologica, 102, adv00710. https://doi.org/10.2340/actadv.v102.919

Issue

Vol. 102 (2022)

Section

Short Communication

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Copyright (c) 2022 Sanaz Amin Guldmann, Anna Byrjalsen, Saher Shaker, Jesper Elberling

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All digitalized ActaDV contents is available freely online. The Society for Publication of Acta Dermato-Venereologica owns the copyright for all material published until volume 88 (2008) and as from volume 89 (2009) the journal has been published fully Open Access, meaning the authors retain copyright to their work.

Unless otherwise specified, all Open Access articles are published under CC-BY-NC licences, allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material for non-commercial purposes, provided proper attribution to the original work.

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