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- W1549004349 endingPage "471" @default.
- W1549004349 startingPage "457" @default.
- W1549004349 abstract "Summary Hoyeraal–Hreidarsson ( HH ) syndrome is a multisystem genetic disorder characterized by very short telomeres and considered a clinically severe variant of dyskeratosis congenita. The main cause of mortality, usually in early childhood, is bone marrow failure. Mutations in several telomere biology genes have been reported to cause HH in about 60% of the HH patients, but the genetic defects in the rest of the patients are still unknown. Understanding the aetiology of HH and its diverse manifestations is challenging because of the complexity of telomere biology and the multiple telomeric and non‐telomeric functions played by telomere‐associated proteins in processes such as telomere replication, telomere protection, DNA damage response and ribosome and spliceosome assembly. Here we review the known clinical complications, molecular defects and germline mutations associated with HH , and elucidate possible mechanistic explanations and remaining questions in our understanding of the disease." @default.
- W1549004349 created "2016-06-24" @default.
- W1549004349 creator A5006363663 @default.
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- W1549004349 creator A5022780370 @default.
- W1549004349 creator A5031904282 @default.
- W1549004349 creator A5055046704 @default.
- W1549004349 date "2015-05-04" @default.
- W1549004349 modified "2023-10-17" @default.
- W1549004349 title "Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder" @default.
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