Year: 2025
Type: article
Study design: Observational Study
Abstract: Background and Aims: Telomere biology disorders (TBDs) are a group of diseases caused by genetic mutations in telomere maintenance mechanisms, affecting various systems and organs. This study investigates the phenotypic and genetic landscape of TBDs in a single-center cohort, highlighting their variable disease progression.
Source: EJC Paediatric Oncology
Authors: Tekin Aksu, Esma Nur Unal, Selin Aytac, Sule Unal
Institution: Hacettepe University
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,340
OpenAlex ID: W4415903324
FWCI:
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