Transient elastography in adult patients with cryptic dyskeratosis congenita reveals subclinical liver fibrosis: a retrospective analysis of the Aachen telomere biology disease registry

Abstract Background Telomere biology disorders (TBD) such as dyskeratosis congenita (DKC) lead to progressive multi-organ failure as impaired telomere maintenance disturbs cellular proliferative capacity. A wide range of hepatic manifestations from asymptomatic liver enzyme elevation to overt liver...

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Bibliographic Details
Main Authors: Mareike Tometten, Martin Kirschner, Susanne Isfort, Marie-Luise Berres, Tim H. Brümmendorf, Fabian Beier
Format: Article
Language:English
Published: BMC 2021-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:https://doi.org/10.1186/s13023-021-02024-8