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Published in 2018 at "British Journal of Haematology"
DOI: 10.1111/bjh.15505
Abstract: A 58-year-old man with a history of short telomere syndrome developed interstitial pulmonary fibrosis and underwent bilateral lung transplantation 20 months prior to presenting with fever and night sweats. He was found to have a…
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Keywords:
highly atypical;
myeloid leukaemia;
telomere syndrome;
short telomere ... See more keywords
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Published in 2022 at "Respirology"
DOI: 10.1111/resp.14264
Abstract: BACKGROUND AND OBJECTIVE Idiopathic pulmonary fibrosis (IPF) is a heterogenous disease with a median survival of 3-4 years. Patients with mutations in telomere-related genes exhibit extrapulmonary signs and symptoms. These patients represent a distinct phenotype of…
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Keywords:
pulmonary fibrosis;
history;
telomere syndrome;
survival ... See more keywords
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Published in 2021 at "International journal of surgical pathology"
DOI: 10.1177/10668969211054102
Abstract: Short telomere syndrome (STS) encompasses a broad family of genetically inherited conditions caused by various mutations in telomerase and other telomere maintenance genes, resulting in premature telomere shortening. STS involves a variety of clinical manifestations,…
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Keywords:
liver;
report;
telomere syndrome;
short telomere ... See more keywords