A New Pathogenic Variant of the RTEL1 Gene and Dyskeratosis Congenita: A Dermatological View-Reference-Cited by-同舟云学术

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

Published:2022-05-10 Issue: Volume:102 Page:adv00710
ISSN:1651-2057
Container-title:Acta Dermato-Venereologica
language:
Short-container-title:Acta Derm Venereol

Author:

Amin Guldmann Sanaz,Byrjalsen Anna,Shaker Saher,Elberling Jesper

Abstract

Abstract is missing (Short communication)

Publisher

Medical Journals Sweden AB

Subject

Dermatology,General Medicine

Reference16 articles.

1. Savage SA. Beginning at the ends: telomeres and human disease. F1000Res 2018; 7: 524.

2. https://doi.org/10.12688/f1000research.14068.1

3. Bertuch AA. The molecular genetics of the telomere biology disorders. RNA Biol 2016; 13: 696-706.

4. https://doi.org/10.1080/15476286.2015.1094596

5. Wang P, Xu Z. Pulmonary fibrosis in dyskeratosis congenita: a case report with PRISMA-compliant systematic review. BMC Pulm Med 2021; 21: 279.

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1. Inherited Reticulate Pigmentary Disorders;Genes;2023-06-20

2. Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres;Hereditary Cancer in Clinical Practice;2023-05-15

3. Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability;Frontiers in Oncology;2022-08-25

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