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Unraveling the Pathogenesis of Hoyeraal-Hreidarsson Syndrome, a Complex Telomere Biology Disorder

Hoyeraal-Hreidarsson (HH) syndrome is a multisystem genetic disorder characterized by very short telomeres and considered a clinically severe variant of dyskeratosis congenita (DC). The main cause of mortality, usually in early childhood, is bone marrow failure. Mutations in several telomere biology...

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書目詳細資料
發表在:Br J Haematol
Main Authors: Glousker, Galina, Touzot, Fabien, Revy, Patrick, Tzfati, Yehuda, Savage, Sharon A.
格式: Artigo
語言:Inglês
出版: 2015
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4526362/
https://ncbi.nlm.nih.gov/pubmed/25940403
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/bjh.13442
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